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<meta name="keywords" content="C4022568, central core regions in muscle fibers, central core regions in muscle fibres, finding, 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="The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Central core regions in muscle fibers (Concept Id: C4022568)
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<!--
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Central core regions in muscle fibers</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868176</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)&#10;Click for more information."><span class="highlight" style="background-color:">C4022568</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Central core regions in muscle fibres</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0030230">HP:0030230</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric. [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_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>
<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">Central core regions in muscle fibers</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="TLline"><a href="/medgen/867300" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber morphology">Abnormal muscle fiber morphology</a></span><ul><li><span class="matched_ds">Central core regions in muscle fibers</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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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>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_320399"><div><strong>Muscular dystrophy, pseudohypertrophic, with Internalized capillaries</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>320399</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)&#10;Click for more information.">C1834652</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/320399">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_324513"><div><strong>Congenital myopathy 23</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324513</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)&#10;Click for more information.">C1836447</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Nemaline myopathy is divided into six types. In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. The types are distinguished by the age when symptoms first appear and the severity of symptoms; however, there is overlap among the various types. The severe congenital type is the most life-threatening. Most individuals with this type do not survive past early childhood due to respiratory failure. The Amish type solely affects the Old Order Amish population of Pennsylvania and is typically fatal in early childhood. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted. People with the childhood-onset type usually develop muscle weakness in adolescence. The adult-onset type is the mildest of all the various types. People with this type usually develop muscle weakness between ages 20 and 50.\n\nNemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/324513">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934612"><div><strong>Myofibrillar myopathy 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934612</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)&#10;Click for more information.">C4310645</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Myofibrillar myopathy-8 (MFM8) is an autosomal recessive myopathy characterized by slowly progressive proximal muscle weakness and atrophy affecting the upper and lower limbs, resulting in increased falls, gait problems, difficulty running or climbing stairs, and upper limb weakness or scapular winging. Some patients develop distal muscle weakness and atrophy. The phenotype may also be consistent with a clinical diagnosis of limb-girdle muscular dystrophy (LGMD). Age at symptom onset ranges from infancy to adulthood. Ambulation is generally preserved and cardiac involvement is rare, but respiratory compromise with decreased forced vital capacity often occurs. Muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization; some patients have been reported to have dystrophic changes on muscle biopsy (O'Grady et al., 2016; Daimaguler et al., 2021). There is significant phenotypic variation, even in patients with the same mutation, which must be taken into account when counseling affecting individuals (Woods et al., 2020).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934612">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841337"><div><strong>Central core myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841337</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)&#10;Click for more information.">C5830701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital myopathy-1A (CMYO1A) with susceptibility to malignant hyperthermia is an autosomal dominant disorder of skeletal muscle characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported. There is significant phenotypic variability, even within families, and the wide clinical diversity most likely depends on the severity of the RYR1 mutation. The disorder is static or slowly progressive; affected individuals typically show delayed motor development and usually achieve independent walking, although many have difficulty running or climbing stairs. Additional features often include mild facial weakness, joint laxity, shoulder girdle weakness, and skeletal manifestations, such as dislocation of the hips, foot deformities, scoliosis, and Achilles tendon contractures. Some patients present with orthopedic deformities. Serum creatine kinase is usually not elevated. Respiratory involvement is rare and there is no central nervous system or cardiac involvement. Patients with dominant mutations in the RYR1 gene are at risk for malignant hyperthermia and both disorders may segregate in the same family. Historically, patients with congenital myopathy due to RYR1 mutations were diagnosed based on the finding of pathologic central cores (central core disease; CCD) on muscle biopsy, which represent areas that lack oxidative enzymes and mitochondrial activity in type 1 muscle fibers. However, additional pathologic findings may also be observed, including cores and rods, central nuclei, fiber type disproportion, multiminicores, and uniform type 1 fibers. These histopathologic features are not always specific to RYR1 myopathy and often change over time (Quinlivan et al., 2003; Jungbluth et al., 2007; Klein et al., 2012; Ogasawara and Nishino, 2021). Some patients with RYR1 mutations have pathologic findings on muscle biopsy, but are clinically asymptomatic (Shuaib et al., 1987; Quane et al., 1993).&#13; Rare patients with a more severe phenotype have been found to carry a heterozygous mutation in the RYR1 gene inherited from an unaffected parent. However, in these cases, there is a possibility of recessive inheritance (CMYO1B; 255320) with either a missed second RYR1 mutation in trans or a genomic rearrangement on the other allele that is undetectable on routine genomic sequencing, since the RYR1 gene is very large and genetic analysis may be difficult (Klein et al., 2012).&#13; Genetic Heterogeneity of Congenital Myopathy&#13; See also CMYO1B (255320), caused by mutation in the RYR1 gene (180901) on chromosome 19q13; CMYO2A (161800), CMYO2B (620265), and CMYO2C (620278), caused by mutation in the ACTA1 gene (102610) on chromosome 1q42; CMYO3 (602771), caused by mutation in the SELENON gene (606210) on chromosome 1p36; CMYO4A (255310) and CMYO4B (609284), caused by mutation in the TPM3 gene (191030) on chromosome 1q21; CMYO5 (611705), caused by mutation in the TTN gene (188840) on chromosome 2q31; CMYO6 (605637), caused by mutation in the MYH2 gene (160740) on chromosome 17p13; CMYO7A (608358) and CMYO7B (255160), caused by mutation in the MYH7 gene (160760) on chromosome 14q11; CMYO8 (618654), caused by mutation in the ACTN2 gene (102573) on chromosome 1q43; CMYO9A (618822) and CMYO9B (618823), caused by mutation in the FXR1 gene (600819) on chromosome 3q28; CMYO10A (614399) and CMYO10B (620249), caused by mutation in the MEGF10 gene (612453) on chromosome 5q23; CMYO11 (619967), caused by mutation in the HACD1 gene (610467) on chromosome 10p12; CMYO12 (612540), caused by mutation in the CNTN1 gene (600016) on chromosome 12q12; CMYO13 (255995), caused by mutation in the STAC3 gene (615521) on chromosome 12q13; CMYO14 (618414), caused by mutation in the MYL1 gene (160780) on chromosome 2q34; CMYO15 (620161), caused by mutation in the TNNC2 gene (191039) on chromosome 20q13; CMYO16 (618524), caused by mutation in the MYBPC1 gene (160794) on chromosome 12q23; CMYO17 (618975), caused by mutation in the MYOD1 gene (159970) on chromosome 11p15; CMYO18 (620246), caused by mutation in the CACNA1S gene (114208) on chromosome 1q32; CMYO19 (618578), caused by mutation in the PAX7 gene (167410) on chromosome 1p36; CMYO20 (620310), caused by mutation in the RYR3 gene (180903) on chromosome 15q13; CMYO21 (620326), caused by mutation in the DNAJB4 gene (611327) on chromosome 1p31; CMYO22A (620351) and CMYO22B (620369), both caused by mutation in the SCN4A gene (603967) on chromosome 17q23; CMYO23 (609285), caused by mutation in the TPM2 gene (190990) on chromosome 9p13; and CMYO24 (617336), caused by mutation in the MYPN gene (608517) on chromosome 10q21.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841337">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central core myopathy</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324513" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital myopathy 23</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_320399" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, pseudohypertrophic, with Internalized capillaries</a></div>
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<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/35048156">Effects of progressive resistance training in individuals with type 2 diabetic polyneuropathy: a randomised assessor-blinded controlled trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Khan KS,
Overgaard K,
Tankisi H,
Karlsson P,
Devantier L,
Gregersen S,
Jensen TS,
Finnerup NB,
Pop-Busui R,
Dalgas U,
Andersen H</span><br />
<span class="medgenPMjournal">Diabetologia</span>
2022 Apr;65(4):620-631.
Epub 2022 Jan 19
doi: 10.1007/s00125-021-05646-6.
<span class="bold">PMID: </span><a href="/pubmed/35048156" target="_blank">35048156</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34553419">Clinicopathological features of titinopathy from a Chinese neuromuscular center.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huang K,
Duan HQ,
Li QX,
Luo YB,
Bi FF,
Yang H</span><br />
<span class="medgenPMjournal">Neuropathology</span>
2021 Oct;41(5):349-356.
Epub 2021 Sep 22
doi: 10.1111/neup.12761.
<span class="bold">PMID: </span><a href="/pubmed/34553419" target="_blank">34553419</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34297251">The male rectus diastasis: a different concept?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nienhuijs SW,
Berkvens EHM,
de Vries Reilingh TS,
Mommers EHH,
Bouvy ND,
Wegdam J</span><br />
<span class="medgenPMjournal">Hernia</span>
2021 Aug;25(4):951-956.
Epub 2021 Jul 23
doi: 10.1007/s10029-021-02467-9.
<span class="bold">PMID: </span><a href="/pubmed/34297251" target="_blank">34297251</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29669168">Characterization of congenital myopathies at a Korean neuromuscular center.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Park YE,
Shin JH,
Kim HS,
Lee CH,
Kim DS</span><br />
<span class="medgenPMjournal">Muscle Nerve</span>
2018 Aug;58(2):235-244.
Epub 2018 May 20
doi: 10.1002/mus.26147.
<span class="bold">PMID: </span><a href="/pubmed/29669168" target="_blank">29669168</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17224570">The role of muscle biopsy in investigating isolated muscle pain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Filosto M,
Tonin P,
Vattemi G,
Bertolasi L,
Simonati A,
Rizzuto N,
Tomelleri G</span><br />
<span class="medgenPMjournal">Neurology</span>
2007 Jan 16;68(3):181-6.
doi: 10.1212/01.wnl.0000252252.29532.cc.
<span class="bold">PMID: </span><a href="/pubmed/17224570" target="_blank">17224570</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20core%20regions%20in%20muscle%20fibers%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 (12)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38732148">The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mohar NP,
Cox EM,
Adelizzi E,
Moore SA,
Mathews KD,
Darbro BW,
Wallrath LL</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2024 Apr 30;25(9)
doi: 10.3390/ijms25094930.
<span class="bold">PMID: </span><a href="/pubmed/38732148" target="_blank">38732148</a><a href="/pmc/articles/PMC11084688" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36474288">Myositis ossificans circumscripta after surgery and radiotherapy and during sunitinib treatment: a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cren PY,
Penel N,
Cordoba A,
Decanter G,
Gaboriau L,
Ben Haj Amor M</span><br />
<span class="medgenPMjournal">J Med Case Rep</span>
2022 Dec 7;16(1):454.
doi: 10.1186/s13256-022-03664-5.
<span class="bold">PMID: </span><a href="/pubmed/36474288" target="_blank">36474288</a><a href="/pmc/articles/PMC9727934" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34553419">Clinicopathological features of titinopathy from a Chinese neuromuscular center.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huang K,
Duan HQ,
Li QX,
Luo YB,
Bi FF,
Yang H</span><br />
<span class="medgenPMjournal">Neuropathology</span>
2021 Oct;41(5):349-356.
Epub 2021 Sep 22
doi: 10.1111/neup.12761.
<span class="bold">PMID: </span><a href="/pubmed/34553419" target="_blank">34553419</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30406384">Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lawal TA,
Todd JJ,
Meilleur KG</span><br />
<span class="medgenPMjournal">Neurotherapeutics</span>
2018 Oct;15(4):885-899.
doi: 10.1007/s13311-018-00677-1.
<span class="bold">PMID: </span><a href="/pubmed/30406384" target="_blank">30406384</a><a href="/pmc/articles/PMC6277304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17224570">The role of muscle biopsy in investigating isolated muscle pain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Filosto M,
Tonin P,
Vattemi G,
Bertolasi L,
Simonati A,
Rizzuto N,
Tomelleri G</span><br />
<span class="medgenPMjournal">Neurology</span>
2007 Jan 16;68(3):181-6.
doi: 10.1212/01.wnl.0000252252.29532.cc.
<span class="bold">PMID: </span><a href="/pubmed/17224570" target="_blank">17224570</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20core%20regions%20in%20muscle%20fibers%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 (17)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36474288">Myositis ossificans circumscripta after surgery and radiotherapy and during sunitinib treatment: a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cren PY,
Penel N,
Cordoba A,
Decanter G,
Gaboriau L,
Ben Haj Amor M</span><br />
<span class="medgenPMjournal">J Med Case Rep</span>
2022 Dec 7;16(1):454.
doi: 10.1186/s13256-022-03664-5.
<span class="bold">PMID: </span><a href="/pubmed/36474288" target="_blank">36474288</a><a href="/pmc/articles/PMC9727934" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35048156">Effects of progressive resistance training in individuals with type 2 diabetic polyneuropathy: a randomised assessor-blinded controlled trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Khan KS,
Overgaard K,
Tankisi H,
Karlsson P,
Devantier L,
Gregersen S,
Jensen TS,
Finnerup NB,
Pop-Busui R,
Dalgas U,
Andersen H</span><br />
<span class="medgenPMjournal">Diabetologia</span>
2022 Apr;65(4):620-631.
Epub 2022 Jan 19
doi: 10.1007/s00125-021-05646-6.
<span class="bold">PMID: </span><a href="/pubmed/35048156" target="_blank">35048156</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25826741">Augmented reflex cutaneous vasodilatation following short-term dietary nitrate supplementation in humans.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Levitt EL,
Keen JT,
Wong BJ</span><br />
<span class="medgenPMjournal">Exp Physiol</span>
2015 Jun;100(6):708-18.
Epub 2015 May 13
doi: 10.1113/EP085061.
<span class="bold">PMID: </span><a href="/pubmed/25826741" target="_blank">25826741</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20core%20regions%20in%20muscle%20fibers%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/23394784">Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Maggi L,
Scoto M,
Cirak S,
Robb SA,
Klein A,
Lillis S,
Cullup T,
Feng L,
Manzur AY,
Sewry CA,
Abbs S,
Jungbluth H,
Muntoni F</span><br />
<span class="medgenPMjournal">Neuromuscul Disord</span>
2013 Mar;23(3):195-205.
Epub 2013 Feb 8
doi: 10.1016/j.nmd.2013.01.004.
<span class="bold">PMID: </span><a href="/pubmed/23394784" target="_blank">23394784</a></div>
<div class="nl"><a target="_blank" href="/pubmed/3799342">Theoretical analysis of oxygen supply to contracted skeletal muscle.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Groebe K,
Thews G</span><br />
<span class="medgenPMjournal">Adv Exp Med Biol</span>
1986;200:495-514.
doi: 10.1007/978-1-4684-5188-7_62.
<span class="bold">PMID: </span><a href="/pubmed/3799342" target="_blank">3799342</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20core%20regions%20in%20muscle%20fibers%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/35048156">Effects of progressive resistance training in individuals with type 2 diabetic polyneuropathy: a randomised assessor-blinded controlled trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Khan KS,
Overgaard K,
Tankisi H,
Karlsson P,
Devantier L,
Gregersen S,
Jensen TS,
Finnerup NB,
Pop-Busui R,
Dalgas U,
Andersen H</span><br />
<span class="medgenPMjournal">Diabetologia</span>
2022 Apr;65(4):620-631.
Epub 2022 Jan 19
doi: 10.1007/s00125-021-05646-6.
<span class="bold">PMID: </span><a href="/pubmed/35048156" target="_blank">35048156</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17224570">The role of muscle biopsy in investigating isolated muscle pain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Filosto M,
Tonin P,
Vattemi G,
Bertolasi L,
Simonati A,
Rizzuto N,
Tomelleri G</span><br />
<span class="medgenPMjournal">Neurology</span>
2007 Jan 16;68(3):181-6.
doi: 10.1212/01.wnl.0000252252.29532.cc.
<span class="bold">PMID: </span><a href="/pubmed/17224570" target="_blank">17224570</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12112081">A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ferreiro A,
Monnier N,
Romero NB,
Leroy JP,
Bönnemann C,
Haenggeli CA,
Straub V,
Voss WD,
Nivoche Y,
Jungbluth H,
Lemainque A,
Voit T,
Lunardi J,
Fardeau M,
Guicheney P</span><br />
<span class="medgenPMjournal">Ann Neurol</span>
2002 Jun;51(6):750-9.
doi: 10.1002/ana.10231.
<span class="bold">PMID: </span><a href="/pubmed/12112081" target="_blank">12112081</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9232823">Neuropeptide Y-immunoreactive intracardiac neurones, granule-containing cells and nerves associated with ganglia and blood vessels in rat and guinea-pig heart.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sosunov AA,
Hassall CJ,
Loesch A,
Turmaine M,
Fehér E,
Burnstock G</span><br />
<span class="medgenPMjournal">Cell Tissue Res</span>
1997 Sep;289(3):445-54.
doi: 10.1007/s004410050890.
<span class="bold">PMID: </span><a href="/pubmed/9232823" target="_blank">9232823</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8198769">Multicore myopathy--a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Myong NH,
Kang YK,
Chi JG,
Suk SI</span><br />
<span class="medgenPMjournal">J Korean Med Sci</span>
1993 Aug;8(4):312-7.
doi: 10.3346/jkms.1993.8.4.312.
<span class="bold">PMID: </span><a href="/pubmed/8198769" target="_blank">8198769</a><a href="/pmc/articles/PMC3053753" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20core%20regions%20in%20muscle%20fibers%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 (9)</a></div></div>
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