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<meta name="keywords" content="C4021082, fatty replacement of skeletal muscle, finding, skeletal muscle fatty infiltration, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers" /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Fatty replacement of skeletal muscle (Concept Id: C4021082)
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<!--
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UID=866735
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ConceptID=C4021082
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Fatty replacement of skeletal muscle</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866735</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4021082</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
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<td>Skeletal muscle fatty infiltration</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012548">HP:0012548</a></td></tr>
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<div class="portlet_content ln">Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Fatty replacement of skeletal muscle</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868776" ref="tree=MeSH" title="MedGen record for Abnormal skeletal muscle morphology">Abnormal skeletal muscle morphology</a></span><ul><li><span class="matched_ds">Fatty replacement of skeletal muscle</span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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||
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_331805"><div><strong>Bethlem myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331805</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1834674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bethlem myopathy-1 (BTHLM1) is a congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. The age at onset is highly variable, ranging from infancy to adulthood. Disease progression is slow and ambulation is usually retained into adulthood (summary by Butterfield et al., 2013). Genetic Heterogeneity of Bethlem Myopathy See Bethlem myopathy-1B (BTHLM1B; 620725), caused by mutation in the COL6A2 gene (120240) on chromosome 21q22; Bethlem myopathy-1C (620726), caused by mutation the COL6A3 gene (120250) on chromosome 2q37; and Bethlem myopathy-2 (BTHLM2; 616471), caused by mutation in the COL12A1 gene (120320) on chromosome 6q13-q14.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331805">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324741"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2J</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324741</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1837342</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. Caused by homozygous mutation in the titin gene (TTN).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324741">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_342534"><div><strong>Nemaline myopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342534</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014). Genetic Heterogeneity of Nemaline Myopathy See also NEM1 (255310), caused by mutation in the tropomyosin-3 gene (TPM3; 191030) on chromosome 1q21; NEM3 (161800), caused by mutation in the alpha-actin-1 gene (ACTA1; 102610) on chromosome 1q42; NEM4 (609285), caused by mutation in the beta-tropomyosin gene (TPM2; 190990) on chromosome 9p13; NEM5A (605355), also known as Amish nemaline myopathy, NEM5B (620386), and NEM5C (620389), all caused by mutation in the troponin T1 gene (TNNT1; 191041) on chromosome 19q13; NEM6 (609273), caused by mutation in the KBTBD13 gene (613727) on chromosome 15q22; NEM7 (610687), caused by mutation in the cofilin-2 gene (CFL2; 601443) on chromosome 14q13; NEM8 (615348), caused by mutation in the KLHL40 gene (615340), on chromosome 3p22; NEM9 (615731), caused by mutation in the KLHL41 gene (607701) on chromosome 2q31; NEM10 (616165), caused by mutation in the LMOD3 gene (616112) on chromosome 3p14; and NEM11 (617336), caused by mutation in the MYPN gene (608517) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001). Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342534">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340586"><div><strong>Bailey-Bloch congenital myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340586</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">STAC3 disorder is characterized by congenital myopathy, musculoskeletal involvement of the trunk and extremities, feeding difficulties, and delayed motor milestones. Most affected individuals have weakness with myopathic facies, scoliosis, kyphosis or kyphoscoliosis, and contractures. Other common findings are ptosis, abnormalities of the palate (including cleft palate), and short stature. Risk for malignant hyperthermia susceptibility and restrictive lung disease are increased. Intellect is typically normal. Originally described in individuals from the Lumbee Native American tribe (an admixture of Cheraw Indian, English, and African American ancestry) in the state of North Carolina and reported as Native American myopathy, STAC3 disorder has now been identified in numerous other populations worldwide.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340586">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_343979"><div><strong>Nemaline myopathy 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343979</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by Ockeloen et al., 2012). For a discussion of genetic heterogeneity of nemaline myopathy, see 161800.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343979">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413044"><div><strong>Congenital muscular dystrophy due to integrin alpha-7 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413044</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2750786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic congenital muscular dystrophy due to extracellular matrix protein anomaly. The disease has characteristics of early motor development delay and muscle weakness with mild elevation of serum creatine kinase that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. There is evidence this disease is caused by compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413044">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762102"><div><strong>Congenital myopathy 10b, mild variant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762102</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3541476</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Congenital myopathy-10B (CMYO10B) is an autosomal recessive skeletal muscle disorder characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation. Other common features include facial and neck muscle weakness, feeding difficulties, contractures, scoliosis, high-arched palate, hyporeflexia, and difficulties walking. The disorder is slowly progressive and most patients follow a chronic course. Muscle biopsy shows variable findings, including type 1 fiber predominance, minicore lesions, and myofibrillar disorganization (Boyden et al., 2012; Harris et al., 2018). Patients with missense mutations affecting conserved cysteine residues in the EGF-like domain show the mild variant phenotype (CMYO10B) with later onset of respiratory failure and minicores on muscle biopsy, whereas patients with more damaging mutations, including nonsense or frameshift null mutations, show the severe variant phenotype (CMYO10A) (Croci et al., 2022). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762102">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_863797"><div><strong>Nemaline myopathy 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863797</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015360</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Nemaline myopathy-10 (NEM10) is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014). Patients with a stable and much milder disease course have been described (Schatz et al., 2018). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863797">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934627"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2R1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934627</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310660</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-21 (LGMDR21) is characterized by progressive limb-girdle weakness with age of onset ranging from congenital to adult. Muscle imaging shows a specific and selective pattern of fatty muscle degeneration (summary by Servian-Morilla et al., 2020). For a discussion of genetic heterogeneity of autosomal recessive LGMD, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934627">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934789"><div><strong>Myopathy with abnormal lipid metabolism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934789</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934789">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648316"><div><strong>Muscular dystrophy, limb-girdle, autosomal dominant 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648316</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Calpainopathy is characterized by symmetric and progressive weakness of proximal limb-girdle muscles. Clinical findings of calpainopathy include the tendency to walk on tiptoe, difficulty in running, scapular winging, waddling gait, laxity of the abdominal muscles, Achilles tendon shortening, and scoliosis. Affected individuals typically do not have cardiac involvement or intellectual disability. Three autosomal recessive calpainopathy phenotypes have been identified based on the distribution of muscle weakness and age at onset: Pelvifemoral limb-girdle muscular dystrophy (LGMD) (Leyden-Möbius LGMD) phenotype, the most frequently observed calpainopathy phenotype, in which muscle weakness is first evident in the pelvic girdle and later in the shoulder girdle, with onset that may occur as early as before age 12 years or as late as after age 30 years. Scapulohumeral LGMD (Erb LGMD) phenotype, usually a milder phenotype with infrequent early onset, in which muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle. HyperCKemia, usually observed in children or young individuals, in which individuals are asymptomatic and have high serum creatine kinase (CK) concentrations. The autosomal dominant form of calpainopathy is clinically variable, ranging from almost asymptomatic to wheelchair dependence after age 60 years in a few individuals; phenotype is generally milder than the recessive form.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648316">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648290"><div><strong>Charcot-Marie-Tooth disease, demyelinating, type 1G</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648290</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Charcot-Marie-Tooth disease type 1G is an autosomal dominant progressive peripheral sensorimotor neuropathy characterized by distal muscle weakness and atrophy with onset in the first or second decade. Affected individuals have difficulty walking, distal sensory impairment with decreased or absent reflexes, and often have foot deformities. Median motor nerve conduction velocities (NCV) are decreased (less than 38 m/s) and sural nerve biopsy shows myelin defects and onion bulb formation (summary by Hong et al., 2016 and Motley et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648290">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1717569"><div><strong>Myopathy, congenital proximal, with minicore lesions</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1717569</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5394193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital myopathy-9B (CMYO9B) is an autosomal recessive early-onset skeletal muscle disorder mainly affecting proximal muscles. Affected individuals have neonatal hypotonia followed by mildly delayed walking in childhood. Muscle weakness is slowly progressive, resulting in positive Gowers sign and difficulty running or climbing, but most patients remain ambulatory. Some patients develop respiratory involvement requiring ventilatory support, whereas cardiac function is unaffected. Muscle biopsy shows type 1 fiber predominance with disorganized Z-lines and multiminicore myopathy (Estan et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1717569">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1718449"><div><strong>Muscular dystrophy, limb-girdle, autosomal recessive 26</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718449</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5394268</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-26 (LGMDR26) is a muscle disorder characterized by adult-onset weakness that primarily affects the proximal muscles of the lower limbs. The disorder is slowly progressive, with later involvement of the upper limbs and fatty replacement of muscle tissue apparent on MRI. Some patients may have calf hypertrophy. Serum creatine kinase is significantly elevated, and skeletal muscle biopsy shows typical dystrophic features with normal ultrastructural findings. There is no cardiac or respiratory involvement (summary by Vissing et al., 2019). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1718449">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1718769"><div><strong>Oculopharyngodistal myopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718769</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5394548</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculopharyngodistal myopathy-2 (OPDM2) is an autosomal dominant muscle disorder characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. The disorder is slowly progressive, and patients develop facial weakness, bulbar weakness, and difficulty walking or climbing stairs. Some patients may have upper limb involvement and subclinical respiratory insufficiency. Laboratory studies show increased serum creatine kinase; skeletal muscle biopsy shows myopathic changes with abnormal cytoplasmic and intranuclear inclusions (summary by Deng et al., 2020). For a discussion of genetic heterogeneity of OPDM, see OPDM1 (164310).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1718769">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1808663"><div><strong>Myopathy, distal, 7, adult-onset, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1808663</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5676880</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked adult-onset distal myopathy-7 (MPD7) is an X-linked recessive disorder that affects only males. It is characterized by onset of distal muscle weakness predominantly affecting the lower limbs between 20 and 60 years of age. The disorder is slowly progressive, with most affected individuals developing distal upper limb involvement and some developing proximal muscle involvement, although patients remain ambulatory. Muscle biopsy shows variable myopathic changes as well as sarcoplasmic inclusions that may represent abnormally aggregated proteins (summary by Johari et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1808663">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1812978"><div><strong>Inclusion body myopathy and brain white matter abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1812978</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5676909</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inclusion body myopathy and brain white matter abnormalities (IBMWMA) is an autosomal dominant adult-onset disorder characterized predominantly by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging. Additional features may include dysarthria, dysphagia, low back pain, and hyporeflexia. EMG is consistent with a myopathic process, although neuropathic findings have also been shown. Muscle biopsy shows fiber type variation, internal nuclei, rimmed vacuoles, and cytoplasmic protein aggregates or inclusions. Serum creatine kinase is usually elevated. Cognitive impairment or frontotemporal dementia occurs in some patients. The disorder is slowly progressive; some patients become wheelchair-bound after many years. Rare patients with this mutation develop ALS; some have both myopathy and ALS. Brain imaging shows white matter abnormalities using diffusion tensor imaging. The disorder is classified as multisystem proteinopathy-6 (MSP6) due to the characteristic disease mechanism of protein misfolding and abnormal tissue deposition (summary by Leoni et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1812978">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1809981"><div><strong>Oculopharyngodistal myopathy 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809981</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5676941</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculopharyngodistal myopathy-4 (OPDM4) is an autosomal dominant neuromuscular disorder characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs. Initial symptoms of the disorder, ptosis and limited eye movements, most commonly appear in the second or third decades. There is slow progression with development of dysarthria, dysphagia, and distal limb weakness and atrophy associated with absent deep tendon reflexes; sensation is normal. Serum creatine kinase is often increased, and skeletal muscle biopsy typically shows chronic myopathic changes with rimmed vacuoles and filamentous intranuclear inclusions (summary by Yu et al., 2022). For a discussion of genetic heterogeneity of OPDM, see OPDM1 (164310).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1809981">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824046"><div><strong>Congenital myopathy 15</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824046</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Congenital myopathy-15 (CMYO15) is a skeletal muscle disorder characterized by symptom onset soon after birth. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. The disorder is unique in that there is gradual improvement of the severe muscle weakness with time, although forced vital capacity remains decreased. Additional features include facial weakness, scoliosis, joint contractures, and persistent ptosis or external ophthalmoplegia (van de Locht et al., 2021). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824046">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1840919"><div><strong>Congenital myopathy 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840919</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5830283</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Congenital myopathy-18 (CMYO18) is a disorder of the skeletal muscle characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy. There is clinical heterogeneity in the manifestations and severity, ranging from fetal akinesia sequence causing early death to onset of symptoms in adulthood. Most affected individuals show delayed motor development with generalized hypotonia and progressive axial and limb muscle weakness beginning soon after birth or in infancy. Additional features may include swallowing difficulties, external ophthalmoplegia, ptosis, high-arched palate, and respiratory insufficiency, which can lead to death in severe cases. Muscle biopsy shows variable morphologic abnormalities, including alveolar changes in the intermyofibrillar network, fiber size variability, focal disorganization, internal nuclei, and dilated sarcoplasmic reticulum and T-tubules. The disorder results from a defect in excitation-contraction coupling in skeletal muscle (Schartner et al., 2017; Ravenscroft et al., 2021; Mauri et al., 2021; Yis et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1840919">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1847791"><div><strong>Immunodeficiency 115 with autoinflammation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847791</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5882724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Immunodeficiency-115 with autoinflammation (IMD115) is an autosomal recessive disorder characterized by the onset of symptoms of immune dysregulation in early infancy. Affected individuals have immunodeficiency with recurrent bacterial, viral, and fungal infections, as well as autoinflammatory features, including arthritis and dermatitis. Some patients may have more systemic involvement, such as myopathy, gastrointestinal abnormalities, and anemia. Laboratory studies show variable B-cell and T-cell defects, sometimes with defective antibody responses and hypogammaglobulinemia (Boisson et al., 2015; Oda et al., 2019).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1847791">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1856205"><div><strong>Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1856205</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5935630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Autosomal recessive distal hereditary motor neuropathy-11 with spasticity (HMNR11) is characterized by onset of slowly progressive distal muscle weakness and atrophy and spasticity of the lower limbs in the first decade of life. Affected individuals have difficulty walking, although ambulation is retained into adulthood. There is usually upper limb involvement. Some patients have foot deformities. Electrophysiologic studies are consistent with a length-dependent axonal motor neuropathy (Maroofian et al., 2024). For a discussion of genetic heterogeneity of autosomal recessive HMN, see HMNR1 (604320).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1856205">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2J</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934627" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2R1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bailey-Bloch congenital myopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bethlem myopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648290" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease, demyelinating, type 1G</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (22)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital muscular dystrophy due to integrin alpha-7 deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762102" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 10b, mild variant</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824046" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 15</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 18</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847791" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 115 with autoinflammation</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1812978" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inclusion body myopathy and brain white matter abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, limb-girdle, autosomal dominant 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1718449" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, limb-girdle, autosomal recessive 26</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934789" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy with abnormal lipid metabolism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1717569" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, congenital proximal, with minicore lesions</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1808663" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, distal, 7, adult-onset, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863797" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nemaline myopathy 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nemaline myopathy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nemaline myopathy 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1856205" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1718769" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculopharyngodistal myopathy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809981" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculopharyngodistal myopathy 4</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35725034">Diagnosis and Treatment Options of Abductor Insufficiency After Total Hip Replacement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearce AN,
|
||
Stambough JB,
|
||
Mears SC,
|
||
Barnes CL,
|
||
Stronach BM</span><br />
|
||
<span class="medgenPMjournal">Orthop Clin North Am</span>
|
||
2022 Jul;53(3):255-265.
|
||
Epub 2022 May 27
|
||
doi: 10.1016/j.ocl.2022.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35725034" target="_blank">35725034</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33333461">The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Natera-de Benito D,
|
||
Ortez C,
|
||
Jou C,
|
||
Jimenez-Mallebrera C,
|
||
Codina A,
|
||
Carrera-García L,
|
||
Expósito-Escudero J,
|
||
Cesar S,
|
||
Martorell L,
|
||
Gallano P,
|
||
Gonzalez-Quereda L,
|
||
Cuadras D,
|
||
Colomer J,
|
||
Yubero D,
|
||
Palau F,
|
||
Nascimento A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2021 Feb;115:50-65.
|
||
Epub 2020 Nov 5
|
||
doi: 10.1016/j.pediatrneurol.2020.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33333461" target="_blank">33333461</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25878327">The investigation and management of metabolic myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olpin SE,
|
||
Murphy E,
|
||
Kirk RJ,
|
||
Taylor RW,
|
||
Quinlivan R</span><br />
|
||
<span class="medgenPMjournal">J Clin Pathol</span>
|
||
2015 Jun;68(6):410-7.
|
||
Epub 2015 Apr 15
|
||
doi: 10.1136/jclinpath-2014-202808.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25878327" target="_blank">25878327</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(fatty%20replacement%20of%20skeletal%20muscle)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (10)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38115119">Restoring skeletal muscle mass as an independent determinant of liver fat deposition improvement in MAFLD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou T,
|
||
Ye J,
|
||
Luo L,
|
||
Wang W,
|
||
Feng S,
|
||
Dong Z,
|
||
Zhuo S,
|
||
Zhong B</span><br />
|
||
<span class="medgenPMjournal">Skelet Muscle</span>
|
||
2023 Dec 19;13(1):23.
|
||
doi: 10.1186/s13395-023-00333-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38115119" target="_blank">38115119</a><a href="/pmc/articles/PMC10731792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37729463">Secondary Rotator Cuff Insufficiency After Anatomic Total Shoulder Arthroplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ardebol J,
|
||
Pak T,
|
||
Kiliç AĪ,
|
||
Hwang S,
|
||
Menendez ME,
|
||
Denard PJ</span><br />
|
||
<span class="medgenPMjournal">JBJS Rev</span>
|
||
2023 Sep 1;11(9)
|
||
Epub 2023 Sep 20
|
||
doi: 10.2106/JBJS.RVW.23.00099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37729463" target="_blank">37729463</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34232334">MRI evidence of extraocular muscle atrophy and fatty replacement in myasthenia gravis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Velonakis G,
|
||
Papadopoulos VE,
|
||
Karavasilis E,
|
||
Filippiadis DK,
|
||
Zouvelou V</span><br />
|
||
<span class="medgenPMjournal">Neuroradiology</span>
|
||
2021 Sep;63(9):1531-1538.
|
||
Epub 2021 Jul 7
|
||
doi: 10.1007/s00234-021-02753-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34232334" target="_blank">34232334</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32053721">The Impact of Skeletal Muscle ERα on Mitochondrial Function and Metabolic Health.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hevener AL,
|
||
Ribas V,
|
||
Moore TM,
|
||
Zhou Z</span><br />
|
||
<span class="medgenPMjournal">Endocrinology</span>
|
||
2020 Feb 1;161(2)
|
||
doi: 10.1210/endocr/bqz017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32053721" target="_blank">32053721</a><a href="/pmc/articles/PMC7017798" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29220207">MR Imaging of Muscle Trauma: Anatomy, Biomechanics, Pathophysiology, and Imaging Appearance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Flores DV,
|
||
Mejía Gómez C,
|
||
Estrada-Castrillón M,
|
||
Smitaman E,
|
||
Pathria MN</span><br />
|
||
<span class="medgenPMjournal">Radiographics</span>
|
||
2018 Jan-Feb;38(1):124-148.
|
||
Epub 2017 Dec 8
|
||
doi: 10.1148/rg.2018170072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29220207" target="_blank">29220207</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatty%20replacement%20of%20skeletal%20muscle%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (158)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35725034">Diagnosis and Treatment Options of Abductor Insufficiency After Total Hip Replacement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearce AN,
|
||
Stambough JB,
|
||
Mears SC,
|
||
Barnes CL,
|
||
Stronach BM</span><br />
|
||
<span class="medgenPMjournal">Orthop Clin North Am</span>
|
||
2022 Jul;53(3):255-265.
|
||
Epub 2022 May 27
|
||
doi: 10.1016/j.ocl.2022.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35725034" target="_blank">35725034</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32703463">Limb Girdle Muscular Dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bockhorst J,
|
||
Wicklund M</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2020 Aug;38(3):493-504.
|
||
doi: 10.1016/j.ncl.2020.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32703463" target="_blank">32703463</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32053721">The Impact of Skeletal Muscle ERα on Mitochondrial Function and Metabolic Health.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hevener AL,
|
||
Ribas V,
|
||
Moore TM,
|
||
Zhou Z</span><br />
|
||
<span class="medgenPMjournal">Endocrinology</span>
|
||
2020 Feb 1;161(2)
|
||
doi: 10.1210/endocr/bqz017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32053721" target="_blank">32053721</a><a href="/pmc/articles/PMC7017798" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31163512">Advanced MRI Patterns of Muscle Disease in Inherited and Acquired Myopathies: What the Radiologist Should Know.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caetano AP,
|
||
Alves P</span><br />
|
||
<span class="medgenPMjournal">Semin Musculoskelet Radiol</span>
|
||
2019 Jun;23(3):e82-e106.
|
||
Epub 2019 Jun 4
|
||
doi: 10.1055/s-0039-1684022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31163512" target="_blank">31163512</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22239878">Skeletal muscle edema in muscular dystrophy: clinical and diagnostic implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poliachik SL,
|
||
Friedman SD,
|
||
Carter GT,
|
||
Parnell SE,
|
||
Shaw DW</span><br />
|
||
<span class="medgenPMjournal">Phys Med Rehabil Clin N Am</span>
|
||
2012 Feb;23(1):107-22, xi.
|
||
Epub 2011 Dec 15
|
||
doi: 10.1016/j.pmr.2011.11.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22239878" target="_blank">22239878</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatty%20replacement%20of%20skeletal%20muscle%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (114)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37729463">Secondary Rotator Cuff Insufficiency After Anatomic Total Shoulder Arthroplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ardebol J,
|
||
Pak T,
|
||
Kiliç AĪ,
|
||
Hwang S,
|
||
Menendez ME,
|
||
Denard PJ</span><br />
|
||
<span class="medgenPMjournal">JBJS Rev</span>
|
||
2023 Sep 1;11(9)
|
||
Epub 2023 Sep 20
|
||
doi: 10.2106/JBJS.RVW.23.00099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37729463" target="_blank">37729463</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35725034">Diagnosis and Treatment Options of Abductor Insufficiency After Total Hip Replacement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearce AN,
|
||
Stambough JB,
|
||
Mears SC,
|
||
Barnes CL,
|
||
Stronach BM</span><br />
|
||
<span class="medgenPMjournal">Orthop Clin North Am</span>
|
||
2022 Jul;53(3):255-265.
|
||
Epub 2022 May 27
|
||
doi: 10.1016/j.ocl.2022.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35725034" target="_blank">35725034</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29408413">Regulation of fibrosis in muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith LR,
|
||
Barton ER</span><br />
|
||
<span class="medgenPMjournal">Matrix Biol</span>
|
||
2018 Aug;68-69:602-615.
|
||
Epub 2018 Feb 2
|
||
doi: 10.1016/j.matbio.2018.01.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29408413" target="_blank">29408413</a><a href="/pmc/articles/PMC6519730" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27566866">Histological effects of givinostat in boys with Duchenne muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bettica P,
|
||
Petrini S,
|
||
D'Oria V,
|
||
D'Amico A,
|
||
Catteruccia M,
|
||
Pane M,
|
||
Sivo S,
|
||
Magri F,
|
||
Brajkovic S,
|
||
Messina S,
|
||
Vita GL,
|
||
Gatti B,
|
||
Moggio M,
|
||
Puri PL,
|
||
Rocchetti M,
|
||
De Nicolao G,
|
||
Vita G,
|
||
Comi GP,
|
||
Bertini E,
|
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Mercuri E</span><br />
|
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<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2016 Oct;26(10):643-649.
|
||
Epub 2016 Jul 11
|
||
doi: 10.1016/j.nmd.2016.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27566866" target="_blank">27566866</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27106402">Muscle wasting and aging: Experimental models, fatty infiltrations, and prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brioche T,
|
||
Pagano AF,
|
||
Py G,
|
||
Chopard A</span><br />
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<span class="medgenPMjournal">Mol Aspects Med</span>
|
||
2016 Aug;50:56-87.
|
||
Epub 2016 Apr 19
|
||
doi: 10.1016/j.mam.2016.04.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27106402" target="_blank">27106402</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatty%20replacement%20of%20skeletal%20muscle%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (90)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38115119">Restoring skeletal muscle mass as an independent determinant of liver fat deposition improvement in MAFLD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou T,
|
||
Ye J,
|
||
Luo L,
|
||
Wang W,
|
||
Feng S,
|
||
Dong Z,
|
||
Zhuo S,
|
||
Zhong B</span><br />
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<span class="medgenPMjournal">Skelet Muscle</span>
|
||
2023 Dec 19;13(1):23.
|
||
doi: 10.1186/s13395-023-00333-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38115119" target="_blank">38115119</a><a href="/pmc/articles/PMC10731792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34390840">Rotator cuff fatty infiltration and muscle atrophy: relation to glenoid deformity in primary glenohumeral osteoarthritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moverman MA,
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||
Puzzitiello RN,
|
||
Menendez ME,
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Pagani NR,
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||
Hart PJ,
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Churchill RW,
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||
Kirsch JM,
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Jawa A</span><br />
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<span class="medgenPMjournal">J Shoulder Elbow Surg</span>
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||
2022 Feb;31(2):286-293.
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Epub 2021 Aug 12
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doi: 10.1016/j.jse.2021.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34390840" target="_blank">34390840</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32703463">Limb Girdle Muscular Dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bockhorst J,
|
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Wicklund M</span><br />
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<span class="medgenPMjournal">Neurol Clin</span>
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2020 Aug;38(3):493-504.
|
||
doi: 10.1016/j.ncl.2020.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32703463" target="_blank">32703463</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30525762">Sarcopenia associated with chemotherapy and targeted agents for cancer therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis MP,
|
||
Panikkar R</span><br />
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||
<span class="medgenPMjournal">Ann Palliat Med</span>
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||
2019 Jan;8(1):86-101.
|
||
Epub 2018 Sep 7
|
||
doi: 10.21037/apm.2018.08.02.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30525762" target="_blank">30525762</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20199120">The effect of the menstrual cycle on exercise metabolism: implications for exercise performance in eumenorrhoeic women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oosthuyse T,
|
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Bosch AN</span><br />
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<span class="medgenPMjournal">Sports Med</span>
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||
2010 Mar 1;40(3):207-27.
|
||
doi: 10.2165/11317090-000000000-00000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20199120" target="_blank">20199120</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatty%20replacement%20of%20skeletal%20muscle%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (63)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38097064">Blockade of angiotensin II modulates insulin-like growth factor 1-mediated skeletal muscle homeostasis in experimental steatohepatitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tanaka M,
|
||
Kaji K,
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||
Nishimura N,
|
||
Asada S,
|
||
Koizumi A,
|
||
Matsuda T,
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||
Yorioka N,
|
||
Tsuji Y,
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||
Fujinaga Y,
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||
Sato S,
|
||
Namisaki T,
|
||
Akahane T,
|
||
Yoshiji H</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta Mol Cell Res</span>
|
||
2024 Feb;1871(2):119649.
|
||
Epub 2023 Dec 12
|
||
doi: 10.1016/j.bbamcr.2023.119649.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38097064" target="_blank">38097064</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38115119">Restoring skeletal muscle mass as an independent determinant of liver fat deposition improvement in MAFLD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou T,
|
||
Ye J,
|
||
Luo L,
|
||
Wang W,
|
||
Feng S,
|
||
Dong Z,
|
||
Zhuo S,
|
||
Zhong B</span><br />
|
||
<span class="medgenPMjournal">Skelet Muscle</span>
|
||
2023 Dec 19;13(1):23.
|
||
doi: 10.1186/s13395-023-00333-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38115119" target="_blank">38115119</a><a href="/pmc/articles/PMC10731792" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32053721">The Impact of Skeletal Muscle ERα on Mitochondrial Function and Metabolic Health.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hevener AL,
|
||
Ribas V,
|
||
Moore TM,
|
||
Zhou Z</span><br />
|
||
<span class="medgenPMjournal">Endocrinology</span>
|
||
2020 Feb 1;161(2)
|
||
doi: 10.1210/endocr/bqz017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32053721" target="_blank">32053721</a><a href="/pmc/articles/PMC7017798" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27566866">Histological effects of givinostat in boys with Duchenne muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bettica P,
|
||
Petrini S,
|
||
D'Oria V,
|
||
D'Amico A,
|
||
Catteruccia M,
|
||
Pane M,
|
||
Sivo S,
|
||
Magri F,
|
||
Brajkovic S,
|
||
Messina S,
|
||
Vita GL,
|
||
Gatti B,
|
||
Moggio M,
|
||
Puri PL,
|
||
Rocchetti M,
|
||
De Nicolao G,
|
||
Vita G,
|
||
Comi GP,
|
||
Bertini E,
|
||
Mercuri E</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2016 Oct;26(10):643-649.
|
||
Epub 2016 Jul 11
|
||
doi: 10.1016/j.nmd.2016.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27566866" target="_blank">27566866</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20199120">The effect of the menstrual cycle on exercise metabolism: implications for exercise performance in eumenorrhoeic women.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oosthuyse T,
|
||
Bosch AN</span><br />
|
||
<span class="medgenPMjournal">Sports Med</span>
|
||
2010 Mar 1;40(3):207-27.
|
||
doi: 10.2165/11317090-000000000-00000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20199120" target="_blank">20199120</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatty%20replacement%20of%20skeletal%20muscle%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (148)</a></div></div>
|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/39058702">Direct and indirect costs of idiopathic inflammatory myopathies in adults: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daniel E,
|
||
Smith IC,
|
||
Ly V,
|
||
Bourque PR,
|
||
Breiner A,
|
||
Lochmuller H,
|
||
Maltez N,
|
||
Thavorn K,
|
||
Warman-Chardon J</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2024;19(7):e0307144.
|
||
Epub 2024 Jul 26
|
||
doi: 10.1371/journal.pone.0307144.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39058702" target="_blank">39058702</a><a href="/pmc/articles/PMC11280229" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Fatty%20replacement%20of%20skeletal%20muscle%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(fatty%20replacement%20of%20skeletal%20muscle)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Fatty%20replacement%20of%20skeletal%20muscle%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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