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<meta name="keywords" content="C1842160, autosomal dominant myosin storage myopathy, cmyo7a, congenital myopathy 7a, myosin storage, autosomal dominant, disease or syndrome, hyaline body myopathy, msma, myh7, myh7-related late-onset scapuloperoneal muscular dystrophy, myh7-related late-onset scapuloperoneal syndrome, myh7-related late-onset spmd, myh7-related myosin storage myopathy, myh7-related scapuloperoneal myopathy, myopathy with lysis of type 1 myofibrils, myopathy with lysis of type i myofibrils, myopathy, hyaline body, autosomal dominant, myopathy, myosin storage, autosomal dominant, myosin storage myopathy, scapuloperoneal muscular dystrophy, scapuloperoneal myopathy, myh7-related, scapuloperoneal syndrome, myopathic type, spmd, spmm, 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="Autosomal dominant myosin storage congenital myopathy-7A (CMYO7A) is a skeletal muscle disorder with wide phenotypic variability. The age at symptom onset can range from early childhood to late adulthood. Affected individuals have proximal muscle weakness affecting the upper and lower limbs and distal muscle weakness of the lower limbs, resulting in gait difficulties and scapular winging (scapuloperoneal myopathy). Additional features may include thin habitus, high-arched palate, foot drop, pes cavus, calf pseudohypertrophy, and decreased reflexes. The severity is also variable: some patients develop respiratory insufficiency, joint contractures, and scoliosis in the first decades, whereas others are clinically unaffected, but show subtle signs of the disorder on examination. Serum creatine kinase may be normal or elevated. The disease is usually slowly progressive and most patients remain ambulatory. Skeletal muscle biopsy can show different abnormalities, including hyaline bodies, type 1 fiber predominance, congenital fiber-type disproportion (CFTD), and nonspecific myopathic changes with myofibrillar disarray. Intrafamilial variability is common (Dye et al., 2006; Pegoraro et al., 2007; review by Tajsharghi and Oldfors, 2013). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=374868
|
||
ConceptID=C1842160
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Myosin storage myopathy<span class="h1sub">(CMYO7A)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374868</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:">C1842160</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CMYO7A; Congenital myopathy 7A, myosin storage, autosomal dominant; MYH7-related late-onset scapuloperoneal muscular dystrophy; MYH7-Related Myosin Storage Myopathy; MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS; MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT; SCAPULOPERONEAL MUSCULAR DYSTROPHY; Scapuloperoneal myopathy, MYH7-related; SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Myosin storage myopathy (699267007); Hyaline body myopathy (699267007)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="MYH7 - ID: 4625 - NCBI Gene" href="/gene/4625" class="medgenPMinfo">MYH7</a> (14q11.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008409" target="_blank">MONDO:0008409</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/608358" target="_blank">608358</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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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">Autosomal dominant myosin storage congenital myopathy-7A (CMYO7A) is a skeletal muscle disorder with wide phenotypic variability. The age at symptom onset can range from early childhood to late adulthood. Affected individuals have proximal muscle weakness affecting the upper and lower limbs and distal muscle weakness of the lower limbs, resulting in gait difficulties and scapular winging (scapuloperoneal myopathy). Additional features may include thin habitus, high-arched palate, foot drop, pes cavus, calf pseudohypertrophy, and decreased reflexes. The severity is also variable: some patients develop respiratory insufficiency, joint contractures, and scoliosis in the first decades, whereas others are clinically unaffected, but show subtle signs of the disorder on examination. Serum creatine kinase may be normal or elevated. The disease is usually slowly progressive and most patients remain ambulatory. Skeletal muscle biopsy can show different abnormalities, including hyaline bodies, type 1 fiber predominance, congenital fiber-type disproportion (CFTD), and nonspecific myopathic changes with myofibrillar disarray. Intrafamilial variability is common (Dye et al., 2006; Pegoraro et al., 2007; review by Tajsharghi and Oldfors, 2013). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. The signs and symptoms of myosin storage myopathy usually become noticeable in childhood, although they can occur later. Because of muscle weakness, affected individuals may start walking later than usual and have a waddling gait, trouble climbing stairs, and difficulty lifting the arms above shoulder level. Muscle weakness also causes some affected individuals to have trouble breathing. <a target="_blank" href="https://medlineplus.gov/genetics/condition/myosin-storage-myopathy">https://medlineplus.gov/genetics/condition/myosin-storage-myopathy</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_66822"><div><strong>Scapular winging</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66822</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.">C0240953</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal protrusion of the scapula away from the surface of the back.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66822">Feature record</a> | <a href="/medgen?term=%22Scapular%20winging%22%5BClinical%20Features%5D%20OR%2066822%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96533"><div><strong>Shoulder girdle muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96533</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.">C0427063</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96533">Feature record</a> | <a href="/medgen?term=%22Shoulder%20girdle%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%2096533%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96534"><div><strong>Pelvic girdle muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96534</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.">C0427064</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96534">Feature record</a> | <a href="/medgen?term=%22Pelvic%20girdle%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%2096534%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_374276"><div><strong>Calf muscle pseudohypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374276</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.">C1839666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374276">Feature record</a> | <a href="/medgen?term=%22Calf%20muscle%20pseudohypertrophy%22%5BClinical%20Features%5D%20OR%20374276%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339837"><div><strong>Shoulder girdle muscle atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339837</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.">C1847766</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Amyotrophy affecting the muscles of the shoulder girdle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339837">Feature record</a> | <a href="/medgen?term=%22Shoulder%20girdle%20muscle%20atrophy%22%5BClinical%20Features%5D%20OR%20339837%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2881"><div><strong>Hypertrophic cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2881</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.">C0007194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2881">Feature record</a> | <a href="/medgen?term=%22Hypertrophic%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202881%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39084"><div><strong>Falls</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39084</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.">C0085639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sudden movement downward, usually resulting in injury.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39084">Feature record</a> | <a href="/medgen?term=%22Falls%22%5BClinical%20Features%5D%20OR%2039084%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66667"><div><strong>Waddling gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66667</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.">C0231712</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66667">Feature record</a> | <a href="/medgen?term=%22Waddling%20gait%22%5BClinical%20Features%5D%20OR%2066667%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</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.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10135"><div><strong>Myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10135</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.">C0026848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10135">Feature record</a> | <a href="/medgen?term=%22Myopathy%22%5BClinical%20Features%5D%20OR%2010135%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68676"><div><strong>Difficulty climbing stairs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68676</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.">C0239067</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced ability to climb stairs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68676">Feature record</a> | <a href="/medgen?term=%22Difficulty%20climbing%20stairs%22%5BClinical%20Features%5D%20OR%2068676%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108251"><div><strong>Difficulty running</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108251</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.">C0560346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced ability to run.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108251">Feature record</a> | <a href="/medgen?term=%22Difficulty%20running%22%5BClinical%20Features%5D%20OR%20108251%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155433"><div><strong>Generalized muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155433</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.">C0746674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155433">Feature record</a> | <a href="/medgen?term=%22Generalized%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20155433%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333018"><div><strong>Generalized limb muscle atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333018</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.">C1838114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333018">Feature record</a> | <a href="/medgen?term=%22Generalized%20limb%20muscle%20atrophy%22%5BClinical%20Features%5D%20OR%20333018%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_331234"><div><strong>Scapuloperoneal weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331234</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.">C1842161</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331234">Feature record</a> | <a href="/medgen?term=%22Scapuloperoneal%20weakness%22%5BClinical%20Features%5D%20OR%20331234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_331235"><div><strong>Scapuloperoneal amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331235</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.">C1842162</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331235">Feature record</a> | <a href="/medgen?term=%22Scapuloperoneal%20amyotrophy%22%5BClinical%20Features%5D%20OR%20331235%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_330782"><div><strong>Centrally nucleated skeletal muscle fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330782</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.">C1842170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330782">Feature record</a> | <a href="/medgen?term=%22Centrally%20nucleated%20skeletal%20muscle%20fibers%22%5BClinical%20Features%5D%20OR%20330782%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334801"><div><strong>Neck flexor weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334801</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.">C1843637</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334801">Feature record</a> | <a href="/medgen?term=%22Neck%20flexor%20weakness%22%5BClinical%20Features%5D%20OR%20334801%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344274"><div><strong>Type 1 muscle fiber predominance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344274</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.">C1854387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344274">Feature record</a> | <a href="/medgen?term=%22Type%201%20muscle%20fiber%20predominance%22%5BClinical%20Features%5D%20OR%20344274%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867362"><div><strong>EMG: myopathic abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867362</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.">C4021726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867362">Feature record</a> | <a href="/medgen?term=%22EMG%3A%20myopathic%20abnormalities%22%5BClinical%20Features%5D%20OR%20867362%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141657"><div><strong>Reduced vital capacity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141657</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.">C0476408</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141657">Feature record</a> | <a href="/medgen?term=%22Reduced%20vital%20capacity%22%5BClinical%20Features%5D%20OR%20141657%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342469"><div><strong>Mildly elevated creatine kinase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342469</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.">C1850309</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342469">Feature record</a> | <a href="/medgen?term=%22Mildly%20elevated%20creatine%20kinase%22%5BClinical%20Features%5D%20OR%20342469%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374276" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Calf muscle pseudohypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pelvic girdle muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66822" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scapular winging</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339837" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shoulder girdle muscle atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96533" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shoulder girdle muscle weakness</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mildly elevated creatine kinase</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_330782" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Centrally nucleated skeletal muscle fibers</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68676" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Difficulty climbing stairs</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108251" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Difficulty running</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867362" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EMG: myopathic abnormalities</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized limb muscle atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10135" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neck flexor weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_331235" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scapuloperoneal amyotrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_331234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scapuloperoneal weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Type 1 muscle fiber predominance</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Falls</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waddling gait</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141657" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced vital capacity</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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="TLclosed"><span class="TLline"><a href="/medgen/922228" ref="tree=GTR&ncbi_uid=922228&link_uid=922228" title="View MedGen record for 'Hyaline body myopathy'">Hyaline body myopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850709[DISCUI]&test_type=Clinical" ref="ncbi_uid=340603">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340603" target="_blank" href="/omim/160760">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340603" ref="ncbi_uid=340603">V</a></span></span><span class="TLline"><a href="/medgen/340603" ref="tree=GTR&ncbi_uid=340603&link_uid=340603" title="View MedGen record for 'Myopathy, myosin storage, autosomal recessive'">Myopathy, myosin storage, autosomal recessive</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842160[DISCUI]&test_type=Clinical" ref="ncbi_uid=374868">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374868" ref="ncbi_uid=374868">V</a></span></span><span class="TLline">Myosin storage myopathy</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/124381" ref="tree=MeSH" title="MedGen record for Congenital myopathy">Congenital myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/922228" ref="tree=MeSH" title="MedGen record for Hyaline body myopathy">Hyaline body myopathy</a></span><ul><li><span class="matched_ds">Myosin storage myopathy</span></li></ul></li></ul></li></ul></div></div></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/35500790">2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groh WJ,
|
||
Bhakta D,
|
||
Tomaselli GF,
|
||
Aleong RG,
|
||
Teixeira RA,
|
||
Amato A,
|
||
Asirvatham SJ,
|
||
Cha YM,
|
||
Corrado D,
|
||
Duboc D,
|
||
Goldberger ZD,
|
||
Horie M,
|
||
Hornyak JE,
|
||
Jefferies JL,
|
||
Kääb S,
|
||
Kalman JM,
|
||
Kertesz NJ,
|
||
Lakdawala NK,
|
||
Lambiase PD,
|
||
Lubitz SA,
|
||
McMillan HJ,
|
||
McNally EM,
|
||
Milone M,
|
||
Namboodiri N,
|
||
Nazarian S,
|
||
Patton KK,
|
||
Russo V,
|
||
Sacher F,
|
||
Santangeli P,
|
||
Shen WK,
|
||
Sobral Filho DC,
|
||
Stambler BS,
|
||
Stöllberger C,
|
||
Wahbi K,
|
||
Wehrens XHT,
|
||
Weiner MM,
|
||
Wheeler MT,
|
||
Zeppenfeld K</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2022 Oct;19(10):e61-e120.
|
||
Epub 2022 Apr 29
|
||
doi: 10.1016/j.hrthm.2022.04.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35500790" target="_blank">35500790</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33516708">Genetic Testing for Early Onset Atrial Arrhythmias Changes Clinical Management: 2 Cases of Cardiac Emerinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoneda ZT,
|
||
Anderson KC,
|
||
Estrada JC,
|
||
Quintana JA,
|
||
Strickland T,
|
||
Montgomery JA,
|
||
Michaud GF,
|
||
Roden DM,
|
||
Shoemaker MB</span><br />
|
||
<span class="medgenPMjournal">JACC Clin Electrophysiol</span>
|
||
2021 Mar;7(3):410-412.
|
||
Epub 2021 Jan 27
|
||
doi: 10.1016/j.jacep.2020.11.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33516708" target="_blank">33516708</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23137741">Cardiac management in neuromuscular diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allen HD,
|
||
Thrush PT,
|
||
Hoffman TM,
|
||
Flanigan KM,
|
||
Mendell JR</span><br />
|
||
<span class="medgenPMjournal">Phys Med Rehabil Clin N Am</span>
|
||
2012 Nov;23(4):855-68.
|
||
doi: 10.1016/j.pmr.2012.08.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23137741" target="_blank">23137741</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(myosin%20storage%20myopathy)%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 (14)</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/31578728">Congenital myopathies: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Claeys KG</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2020 Mar;62(3):297-302.
|
||
Epub 2019 Oct 2
|
||
doi: 10.1111/dmcn.14365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31578728" target="_blank">31578728</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22918376">Myosinopathies: pathology and mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tajsharghi H,
|
||
Oldfors A</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2013 Jan;125(1):3-18.
|
||
Epub 2012 Aug 5
|
||
doi: 10.1007/s00401-012-1024-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22918376" target="_blank">22918376</a><a href="/pmc/articles/PMC3535372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19138847">Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uro-Coste E,
|
||
Arné-Bes MC,
|
||
Pellissier JF,
|
||
Richard P,
|
||
Levade T,
|
||
Heitz F,
|
||
Figarella-Branger D,
|
||
Delisle MB</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2009 Feb;19(2):163-6.
|
||
Epub 2009 Jan 12
|
||
doi: 10.1016/j.nmd.2008.11.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19138847" target="_blank">19138847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19181095">Thick filament diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oldfors A,
|
||
Lamont PJ</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2008;642:78-91.
|
||
doi: 10.1007/978-0-387-84847-1_7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19181095" target="_blank">19181095</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17434305">Hereditary myosin myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oldfors A</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2007 May;17(5):355-67.
|
||
Epub 2007 Apr 16
|
||
doi: 10.1016/j.nmd.2007.02.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17434305" target="_blank">17434305</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myosin%20storage%20myopathy%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37794383">A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naderi N,
|
||
Mohsen-Pour N,
|
||
Nilipour Y,
|
||
Pourirahim M,
|
||
Maleki M,
|
||
Kalayinia S</span><br />
|
||
<span class="medgenPMjournal">BMC Cardiovasc Disord</span>
|
||
2023 Oct 4;23(1):487.
|
||
doi: 10.1186/s12872-023-03538-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37794383" target="_blank">37794383</a><a href="/pmc/articles/PMC10552240" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31578728">Congenital myopathies: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Claeys KG</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2020 Mar;62(3):297-302.
|
||
Epub 2019 Oct 2
|
||
doi: 10.1111/dmcn.14365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31578728" target="_blank">31578728</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27387980">MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fiorillo C,
|
||
Astrea G,
|
||
Savarese M,
|
||
Cassandrini D,
|
||
Brisca G,
|
||
Trucco F,
|
||
Pedemonte M,
|
||
Trovato R,
|
||
Ruggiero L,
|
||
Vercelli L,
|
||
D'Amico A,
|
||
Tasca G,
|
||
Pane M,
|
||
Fanin M,
|
||
Bello L,
|
||
Broda P,
|
||
Musumeci O,
|
||
Rodolico C,
|
||
Messina S,
|
||
Vita GL,
|
||
Sframeli M,
|
||
Gibertini S,
|
||
Morandi L,
|
||
Mora M,
|
||
Maggi L,
|
||
Petrucci A,
|
||
Massa R,
|
||
Grandis M,
|
||
Toscano A,
|
||
Pegoraro E,
|
||
Mercuri E,
|
||
Bertini E,
|
||
Mongini T,
|
||
Santoro L,
|
||
Nigro V,
|
||
Minetti C,
|
||
Santorelli FM,
|
||
Bruno C;
|
||
Italian Network on Congenital Myopathies</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2016 Jul 7;11(1):91.
|
||
doi: 10.1186/s13023-016-0476-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27387980" target="_blank">27387980</a><a href="/pmc/articles/PMC4936326" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17336526">MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pegoraro E,
|
||
Gavassini BF,
|
||
Borsato C,
|
||
Melacini P,
|
||
Vianello A,
|
||
Stramare R,
|
||
Cenacchi G,
|
||
Angelini C</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2007 Apr;17(4):321-9.
|
||
Epub 2007 Mar 2
|
||
doi: 10.1016/j.nmd.2007.01.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17336526" target="_blank">17336526</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15605950">Myopathies associated with myosin heavy chain mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oldfors A,
|
||
Tajsharghi H,
|
||
Darin N,
|
||
Lindberg C</span><br />
|
||
<span class="medgenPMjournal">Acta Myol</span>
|
||
2004 Sep;23(2):90-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15605950" target="_blank">15605950</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myosin%20storage%20myopathy%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 (11)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37794383">A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naderi N,
|
||
Mohsen-Pour N,
|
||
Nilipour Y,
|
||
Pourirahim M,
|
||
Maleki M,
|
||
Kalayinia S</span><br />
|
||
<span class="medgenPMjournal">BMC Cardiovasc Disord</span>
|
||
2023 Oct 4;23(1):487.
|
||
doi: 10.1186/s12872-023-03538-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37794383" target="_blank">37794383</a><a href="/pmc/articles/PMC10552240" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17372140">Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tajsharghi H,
|
||
Oldfors A,
|
||
Macleod DP,
|
||
Swash M</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2007 Mar 20;68(12):962.
|
||
doi: 10.1212/01.wnl.0000257131.13438.2c.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17372140" target="_blank">17372140</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15605950">Myopathies associated with myosin heavy chain mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oldfors A,
|
||
Tajsharghi H,
|
||
Darin N,
|
||
Lindberg C</span><br />
|
||
<span class="medgenPMjournal">Acta Myol</span>
|
||
2004 Sep;23(2):90-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15605950" target="_blank">15605950</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15322983">Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meredith C,
|
||
Herrmann R,
|
||
Parry C,
|
||
Liyanage K,
|
||
Dye DE,
|
||
Durling HJ,
|
||
Duff RM,
|
||
Beckman K,
|
||
de Visser M,
|
||
van der Graaff MM,
|
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Hedera P,
|
||
Fink JK,
|
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Petty EM,
|
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Lamont P,
|
||
Fabian V,
|
||
Bridges L,
|
||
Voit T,
|
||
Mastaglia FL,
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Laing NG</span><br />
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||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2004 Oct;75(4):703-8.
|
||
Epub 2004 Aug 20
|
||
doi: 10.1086/424760.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15322983" target="_blank">15322983</a><a href="/pmc/articles/PMC1182058" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myosin%20storage%20myopathy%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39485824">Dominant myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viswanathan MC,
|
||
Dutta D,
|
||
Kronert WA,
|
||
Chitre K,
|
||
Padrón R,
|
||
Craig R,
|
||
Bernstein SI,
|
||
Cammarato A</span><br />
|
||
<span class="medgenPMjournal">Genetics</span>
|
||
2025 Jan 8;229(1):1-34.
|
||
doi: 10.1093/genetics/iyae174.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39485824" target="_blank">39485824</a><a href="/pmc/articles/PMC11708916" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37794383">A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naderi N,
|
||
Mohsen-Pour N,
|
||
Nilipour Y,
|
||
Pourirahim M,
|
||
Maleki M,
|
||
Kalayinia S</span><br />
|
||
<span class="medgenPMjournal">BMC Cardiovasc Disord</span>
|
||
2023 Oct 4;23(1):487.
|
||
doi: 10.1186/s12872-023-03538-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37794383" target="_blank">37794383</a><a href="/pmc/articles/PMC10552240" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31130376">Recessive MYH7-related myopathy in two families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beecroft SJ,
|
||
van de Locht M,
|
||
de Winter JM,
|
||
Ottenheijm CA,
|
||
Sewry CA,
|
||
Mohammed S,
|
||
Ryan MM,
|
||
Woodcock IR,
|
||
Sanders L,
|
||
Gooding R,
|
||
Davis MR,
|
||
Oates EC,
|
||
Laing NG,
|
||
Ravenscroft G,
|
||
McLean CA,
|
||
Jungbluth H</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2019 Jun;29(6):456-467.
|
||
Epub 2019 Apr 12
|
||
doi: 10.1016/j.nmd.2019.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31130376" target="_blank">31130376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28973424">Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viswanathan MC,
|
||
Tham RC,
|
||
Kronert WA,
|
||
Sarsoza F,
|
||
Trujillo AS,
|
||
Cammarato A,
|
||
Bernstein SI</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2017 Dec 15;26(24):4799-4813.
|
||
doi: 10.1093/hmg/ddx359.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28973424" target="_blank">28973424</a><a href="/pmc/articles/PMC5886249" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21288719">A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ortolano S,
|
||
Tarrío R,
|
||
Blanco-Arias P,
|
||
Teijeira S,
|
||
Rodríguez-Trelles F,
|
||
García-Murias M,
|
||
Delague V,
|
||
Lévy N,
|
||
Fernández JM,
|
||
Quintáns B,
|
||
Millán BS,
|
||
Carracedo A,
|
||
Navarro C,
|
||
Sobrido MJ</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2011 Apr;21(4):254-62.
|
||
Epub 2011 Feb 1
|
||
doi: 10.1016/j.nmd.2010.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21288719" target="_blank">21288719</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myosin%20storage%20myopathy%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 (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1842160%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (44)</a></li>
|
||
<li><a href="/gtr/tests?term=C1842160%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1842160%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (63)</a></li>
|
||
<li><a href="/gtr/tests?term=C1842160%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1842160%5bDISCUI%5d" target="_blank">See all (70)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=608358" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Myosin%20storage%20myopathy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(myosin%20storage%20myopathy)%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></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=160760" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4625[geneid]" target="_blank">View MYH7 variations in ClinVar</a></li><li><a href="/nuccore/189027144" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=608358" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/congenital_myopathy_7a_myosin_storage_autosomal_dominant" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Myosin%20storage%20myopathy" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/myosin-storage-myopathy" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Myosin%20storage%20myopathy" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Myosin%20storage%20myopathy%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
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||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=374868" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=374868" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1842160[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1842160[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=374868" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=374868" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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