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class="wsprkl btn" title="Jump to previuos match">◀</a><button id="jr-fip-matches">no matches yet</button><a id="jr-fip-next" class="wsprkl btn" title="Jump to next match">▶</a></nav></nav></div><div id="jr-epub-interstitial" class="hidden"></div><div id="jr-content"><article data-type="main"><p class="vip-notice retraction"><strong>This publication is provided for historical reference only and the information may be out of date.</strong></p><div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><div class="fm-sec"><h1 id="_NBK1498_"><span class="title" itemprop="name">Myostatin-Related Muscle Hypertrophy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY</span></h1><p class="contribs">Wagner KR, Cohen JS.</p><p class="fm-aai"><a href="#_NBK1498_pubdet_">Publication Details</a></p><p><em>Estimated reading time: 9 minutes</em></p></div></div><div class="body-content whole_rhythm" itemprop="text"><div id="mstn.Summary" itemprop="description"><h2 id="_mstn_Summary_">Summary</h2><p>
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<b>NOTE: THIS PUBLICATION HAS BEEN RETIRED. THIS ARCHIVAL VERSION IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE.</b>
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</p><div><h4 class="inline">Clinical characteristics.</h4><p>Myostatin-related muscle hypertrophy is characterized by reduced subcutaneous fat pad thickness and increased muscle size in individuals with normal or increased muscle strength. Both heterozygotes and homozygotes for a causative variant in <i>MSTN</i> encoding the protein growth differentiation factor 8 (myostatin) can exhibit muscle hypertrophy. Clinical manifestations depend on the amount of myostatin protein present. An infant homozygous for an <i>MSTN</i> causative variant had muscle mass twice that of sex- and age-matched controls; intellect and cardiac function were normal. He displayed stimulus-induced myoclonus that subsided after two months. Heterozygotes may have increased muscle bulk and strength, but to a lesser degree.</p></div><div><h4 class="inline">Diagnosis/testing.</h4><p>Skeletal muscle size in an individual with myostatin-related muscle hypertrophy is measured by ultrasound examination, DEXA, or MRI. Subcutaneous fat pad thickness is measured by ultrasound or with a caliper. <i>MSTN</i> is the only gene in which mutation is known to cause myostatin-related muscle hypertrophy.</p></div><div><h4 class="inline">Management.</h4><p>Myostatin-related muscle hypertrophy is not known to cause medical complications.</p></div><div><h4 class="inline">Genetic counseling.</h4><p>The phenotypes associated with myostatin-related muscle hypertrophy are inherited in an incomplete autosomal dominant manner. At conception, the sibs of a child with homozygous myostatin-related muscle hypertrophy have a 25% chance of having homozygous myostatin-related muscle hypertrophy, a 50% chance of having one <i>MSTN</i> causative variant with or without increased muscle mass, and a 25% chance of having normal muscle mass and no <i>MSTN</i> causative variants. Heterozygotes may have increased muscle mass. Individuals diagnosed with heterozygous myostatin-related muscle hypertrophy may have a parent with the <i>MSTN</i> causative variant who may have increased muscle mass, or the proband may have the condition as the result of a <i>de novo</i> variant. The proportion of cases caused by a <i>de novo</i> variant is unknown. The chance that sibs of a proband with heterozygous myostatin-related muscle hypertrophy will inherit the <i>MSTN</i> variant is 50% if a parent has increased muscle mass or has an <i>MSTN</i> causative variant. Each child of an individual with heterozygous myostatin-related muscle hypertrophy has a 50% chance of inheriting the <i>MSTN</i> causative variant.</p></div></div><div id="mstn.Diagnosis"><h2 id="_mstn_Diagnosis_">Diagnosis</h2><div id="mstn.Clinical_Diagnosis"><h3>Clinical Diagnosis</h3><p>The diagnosis of myostatin-related muscle hypertrophy is established by clinical findings of reduced subcutaneous fat pad thickness and increased muscle size in individuals with normal or increased muscle strength and an <i>MSTN</i> causative variant identified on molecular genetic testing.</p></div><div id="mstn.Testing"><h3>Testing</h3><p>Skeletal muscle size can be measured by ultrasound, DEXA, or MRI. It is expected to be several deviations above normal for age- and sex-matched controls.</p><p>Subcutaneous fat pad thickness can be measured by ultrasound or with a caliper at various standard locations for which normal values exist.</p><p>Creatine kinase (CK) serum concentration is expected to be normal.</p><div id="mstn.Molecular_Genetic_Testing"><h4>Molecular Genetic Testing</h4><p><b>Gene.</b>
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<i>MSTN,</i> which encodes the protein growth differentiation factor 8 (also known as myostatin) is the only gene in which variants are known to cause myostatin-related muscle hypertrophy.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmstnTmoleculargenetictestingusedin"><a href="/books/NBK1498/table/mstn.T.molecular_genetic_testing_used_in/?report=objectonly" target="object" title="Table 1. " class="img_link icnblk_img" rid-ob="figobmstnTmoleculargenetictestingusedin"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="mstn.T.molecular_genetic_testing_used_in"><a href="/books/NBK1498/table/mstn.T.molecular_genetic_testing_used_in/?report=objectonly" target="object" rid-ob="figobmstnTmoleculargenetictestingusedin">Table 1. </a></h4><p class="float-caption no_bottom_margin">Molecular Genetic Testing Used in Myostatin-Related Muscle Hypertrophy </p></div></div></div></div><div id="mstn.Testing_Strategy"><h3>Testing Strategy</h3><p>
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<b>To confirm/establish the diagnosis in a proband</b>
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</p><ul><li class="half_rhythm"><div><b>Molecular genetic testing.</b> Targeted analysis of the causative variant c.506+5G>A should be performed first. If the variant is not detected and clinical suspicion is high, sequence analysis of the entire gene should be performed.</div></li></ul></div></div><div id="mstn.Clinical_Characteristics"><h2 id="_mstn_Clinical_Characteristics_">Clinical Characteristics</h2><div id="mstn.Clinical_Description"><h3>Clinical Description</h3><p>Clinical manifestations of myostatin-related muscle hypertrophy appear to be dependent on the amount of myostatin protein present. Therefore both heterozygotes and homozygotes can exhibit muscle hypertrophy.</p><p><b>Homozygotes.</b> A homozygous loss-of-function myostatin variant was identified in a hypermuscular infant with muscle mass approximately twice that of sex- and age-matched controls [<a class="bibr" href="#mstn.REF.schuelke.2004.2682" rid="mstn.REF.schuelke.2004.2682">Schuelke et al 2004</a>]. At age 4.5 years, he continued to have increased muscle bulk and strength with normal intellect and normal cardiac function by echocardiography and electrocardiography.</p><p>He initially displayed stimulus-induced myoclonus that subsided after two months. The relationship between myoclonus and the <i>MSTN</i> causative variant is not clear.</p><p>Ultrasonography revealed normal muscle echogenicity and cross-sectional diameter of quadriceps muscle 7.2 SD above the mean.</p><p><b>Heterozygotes.</b> Heterozygotes may have increased muscle bulk and strength. The mother of the child identified to be homozygous for the c.506+5G>A variant was a former professional athlete with large calf muscles [<a class="bibr" href="#mstn.REF.schuelke.2004.2682" rid="mstn.REF.schuelke.2004.2682">Schuelke et al 2004</a>]. See also <a href="#mstn.GenotypePhenotype_Correlations">Genotype-Phenotype Correlations</a>.</p></div><div id="mstn.GenotypePhenotype_Correlations"><h3>Genotype-Phenotype Correlations</h3><p>No information is currently available as only one myostatin-related muscle hypertrophy-causing variant in <i>MSTN</i> has been identified.</p><p>In a multigenerational family segregating a 3.4-Mb deletion of chromosome 2q32.1q32.3 including <i>MSTN</i>, four of seven individuals with the deletion available for examination were reported to have increased muscle strength and increased size of the gastrocnemius and soleus muscles, whereas the other three individuals with the deletion did not have increased muscle strength or size [<a class="bibr" href="#mstn.REF.meienberg.2010.1315" rid="mstn.REF.meienberg.2010.1315">Meienberg et al 2010</a>].</p></div><div id="mstn.Penetrance"><h3>Penetrance</h3><p>Penetrance is unknown.</p></div><div id="mstn.Anticipation"><h3>Anticipation</h3><p>Anticipation is not known to occur.</p></div><div id="mstn.Prevalence"><h3>Prevalence</h3><p>Prevalence is unknown.</p></div></div><div id="mstn.Genetically_Related_Allelic_Disorde"><h2 id="_mstn_Genetically_Related_Allelic_Disorde_">Genetically Related (Allelic) Disorders</h2><p>No phenotypes other than those discussed in this <i>GeneReview</i> are associated with variants in <i>MSTN.</i></p></div><div id="mstn.Differential_Diagnosis"><h2 id="_mstn_Differential_Diagnosis_">Differential Diagnosis</h2><p>The <i>MSTN</i> causative variant does not appear to be associated with myopathy or muscle weakness, thus allowing differentiation of myostatin-related muscle hypertrophy from muscular dystrophies with muscle hypertrophy, including:</p><ul><li class="half_rhythm"><div>Duchenne and Becker muscular dystrophy (see <a href="/books/n/gene/dbmd/?report=reader">Dystrophinopathies</a>)</div></li><li class="half_rhythm"><div>Limb-girdle muscular dystrophy 1C (caveolinopathy)</div></li><li class="half_rhythm"><div>Limb-girdle muscular dystrophies 2C, 2D, 2E (sarcoglycanopthies)</div></li><li class="half_rhythm"><div>Channelopathies such as <a href="/books/n/gene/myotonia-c/?report=reader">myotonia congenita</a>, a chloride channelopathy resulting from pathogenic variants in <i>CLCN1</i></div></li></ul><p>The <i>MSTN</i> causative variant also causes decreased adipose tissue and needs to be distinguished from familial partial lipodystrophy, Dunnigan type (FPLD2), caused by pathogenic variants in <i>LMNA,</i> in which increased muscle mass is not seen [<a class="bibr" href="#mstn.REF.schmidt.2001.2289" rid="mstn.REF.schmidt.2001.2289">Schmidt et al 2001</a>].</p></div><div id="mstn.Management"><h2 id="_mstn_Management_">Management</h2><div id="mstn.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p>Myostatin-related muscle hypertrophy is not currently known to cause any medical complications.</p></div><div id="mstn.Evaluation_of_Relatives_at_Risk"><h3>Evaluation of Relatives at Risk</h3><p>See <a href="#mstn.Related_Genetic_Counseling_Issues">Genetic Counseling</a> for issues related to testing of at-risk relatives for genetic counseling purposes.</p></div><div id="mstn.Therapies_Under_Investigation"><h3>Therapies Under Investigation</h3><p>Search <a href="https://clinicaltrials.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinicalTrials.gov</a> in the US and <a href="http://www.clinicaltrialsregister.eu/ctr-search/search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">EU Clinical Trials Register</a> in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.</p></div></div><div id="mstn.Genetic_Counseling"><h2 id="_mstn_Genetic_Counseling_">Genetic Counseling</h2><p>
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<i>Genetic counseling is the process of providing individuals and families with
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information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
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make informed medical and personal decisions. The following section deals with genetic
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risk assessment and the use of family history and genetic testing to clarify genetic
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status for family members; it is not meant to address all personal, cultural, or
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ethical issues that may arise or to substitute for consultation with a genetics
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professional</i>. —ED.</p><div id="mstn.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p>The phenotypes associated with myostatin-related muscle hypertrophy are inherited in an incomplete autosomal dominant manner.</p></div><div id="mstn.Risk_to_Family_Members"><h3>Risk to Family Members</h3><p>
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<b>Parents of a proband who is homozygous for myostatin-related muscle hypertrophy</b>
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</p><ul><li class="half_rhythm"><div>The parents of a child with homozygous myostatin-related muscle hypertrophy are obligate heterozygotes and therefore have one <i>MSTN</i> variant.</div></li><li class="half_rhythm"><div>Heterozygotes may have increased muscle mass.</div></li></ul><p>
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<b>Sibs of a proband</b>
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</p><ul><li class="half_rhythm"><div>At conception, each sib of a child with homozygous myostatin-related muscle hypertrophy has a 25% chance of having homozygous myostatin-related muscle hypertrophy, a 50% chance of having one <i>MSTN</i> causative variant with or without increased muscle mass, and a 25% chance of having normal muscle mass and no <i>MSTN</i> causative variants.</div></li><li class="half_rhythm"><div>Heterozygotes may have increased muscle mass.</div></li></ul><p><b>Offspring of a proband.</b> The offspring of an individual with homozygous myostatin-related muscle hypertrophy are obligate heterozygotes for a causative variant in <i>MSTN</i> and may have increased muscle mass.</p><p><b>Other family members of a proband.</b> Each sib of the proband's parents has a 50% chance of having one <i>MSTN</i> causative variant and may have increased muscle mass.</p><p><b>Parents of a proband</b>
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<b>who is heterozygous for myostatin-related muscle hypertrophy</b></p><ul><li class="half_rhythm"><div>Individuals diagnosed with heterozygous myostatin-related muscle hypertrophy may have a parent with an <i>MSTN</i> causative variant who may have increased muscle mass or may have the condition as the result of a <i>de novo</i> variant. The proportion of cases caused by a <i>de novo</i> variant is unknown.</div></li><li class="half_rhythm"><div>Recommendations for the evaluation of parents of a proband with an apparent <i>de novo</i> variant include clinical evaluation for evidence of muscle hypertrophy.</div></li></ul><p>Note: Although individuals diagnosed with heterozygous myostatin-related muscle hypertrophy may have a parent with increased muscle mass, the family history may appear to be negative because of incomplete penetrance or failure to recognize the condition in family members.</p><p>
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<b>Sibs of a proband</b>
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</p><ul><li class="half_rhythm"><div>The chance that the sibs of the proband will inherit the <i>MSTN</i> causative variant depends on the genetic status of the proband's parents.</div></li><li class="half_rhythm"><div>If a parent of the proband has increased muscle mass, the chance that the sibs will inherit the <i>MSTN</i> causative variant is 50%.</div></li></ul><p><b>Offspring of a proband.</b> Each child of an individual with heterozygous myostatin-related muscle hypertrophy has a 50% chance of inheriting the <i>MSTN</i> causative variant.</p><p><b>Other family members of a proband.</b> The chance that other family members will be affected depends on the status of the proband's parents: if a parent has increased muscle mass, his or her family members may be affected.</p></div><div id="mstn.Related_Genetic_Counseling_Issues"><h3>Related Genetic Counseling Issues</h3><p><b>DNA banking</b> is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.</p></div></div><div id="mstn.Resources"><h2 id="_mstn_Resources_">Resources</h2><p>
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<i>GeneReviews staff has selected the following disease-specific and/or umbrella
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support organizations and/or registries for the benefit of individuals with this disorder
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and their families. GeneReviews is not responsible for the information provided by other
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organizations. For information on selection criteria, click <a href="/books/n/gene/app4/?report=reader">here</a>.</i></p><p>No specific resources for Myostatin-Related Muscle Hypertrophy have been identified by <i>GeneReviews</i> staff.</p></div><div id="mstn.Molecular_Genetics"><h2 id="_mstn_Molecular_Genetics_">Molecular Genetics</h2><p><i>Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —</i>ED.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmstnmolgenTA"><a href="/books/NBK1498/table/mstn.molgen.TA/?report=objectonly" target="object" title="Table A." class="img_link icnblk_img" rid-ob="figobmstnmolgenTA"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="mstn.molgen.TA"><a href="/books/NBK1498/table/mstn.molgen.TA/?report=objectonly" target="object" rid-ob="figobmstnmolgenTA">Table A.</a></h4><p class="float-caption no_bottom_margin">Myostatin-Related Muscle Hypertrophy: Genes and Databases </p></div></div><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmstnmolgenTB"><a href="/books/NBK1498/table/mstn.molgen.TB/?report=objectonly" target="object" title="Table B." class="img_link icnblk_img" rid-ob="figobmstnmolgenTB"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="mstn.molgen.TB"><a href="/books/NBK1498/table/mstn.molgen.TB/?report=objectonly" target="object" rid-ob="figobmstnmolgenTB">Table B.</a></h4><p class="float-caption no_bottom_margin">OMIM Entries for Myostatin-Related Muscle Hypertrophy (View All in OMIM) </p></div></div><p><b>Benign variants.</b> Five missense substitutions in conserved amino acid residues have been identified [<a class="bibr" href="#mstn.REF.ferrell.1999.203" rid="mstn.REF.ferrell.1999.203">Ferrell et al 1999</a>]. Two of these, p.Ala55Thr in exon 1 and p.Lys153Arg in exon 2, are polymorphic benign variants in the general population (see <a href="/books/NBK1498/table/mstn.T.selected_mstn_variants/?report=objectonly" target="object" rid-ob="figobmstnTselectedmstnvariants">Table 2</a>).</p><p><b>Pathogenic variants.</b> Only one muscle hypertrophy-causing <i>MSTN</i> variant has been reported to date; c.506+5G>A results in misspliced mRNA [<a class="bibr" href="#mstn.REF.schuelke.2004.2682" rid="mstn.REF.schuelke.2004.2682">Schuelke et al 2004</a>] (see <a href="/books/NBK1498/table/mstn.T.selected_mstn_variants/?report=objectonly" target="object" rid-ob="figobmstnTselectedmstnvariants">Table 2</a>; for more information, see <a href="/books/NBK1498/?report=reader#mstn.molgen.TA">Table A</a>). In a multiplex family, a heterozygous contiguous gene deletion including the entire <i>MSTN</i> gene was reported. Some of the individuals in this family who had the heterozygous contiguous gene deletion had increased muscle strength and size [<a class="bibr" href="#mstn.REF.meienberg.2010.1315" rid="mstn.REF.meienberg.2010.1315">Meienberg et al 2010</a>].</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figmstnTselectedmstnvariants"><a href="/books/NBK1498/table/mstn.T.selected_mstn_variants/?report=objectonly" target="object" title="Table 2. " class="img_link icnblk_img" rid-ob="figobmstnTselectedmstnvariants"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="mstn.T.selected_mstn_variants"><a href="/books/NBK1498/table/mstn.T.selected_mstn_variants/?report=objectonly" target="object" rid-ob="figobmstnTselectedmstnvariants">Table 2. </a></h4><p class="float-caption no_bottom_margin">Selected <i>MSTN</i> Variants </p></div></div><p><b>Normal gene product.</b> Myostatin, composed of 375 amino acids, is also known as growth differentiation factor 8 and belongs to the transforming growth factor β superfamily. Myostatin is a negative regulator of muscle growth expressed almost exclusively in developing and adult skeletal muscle [<a class="bibr" href="#mstn.REF.mcpherron.1997.83" rid="mstn.REF.mcpherron.1997.83">McPherron et al 1997</a>].</p><p><b>Abnormal gene product.</b> The only known causative variant results in no detectable myostatin production. Loss or inhibition of myostatin is associated with increased skeletal muscle growth by muscle fiber hyperplasia and hypertrophy [<a class="bibr" href="#mstn.REF.mcpherron.1997.83" rid="mstn.REF.mcpherron.1997.83">McPherron et al 1997</a>].</p><ul><li class="half_rhythm"><div>Mice heterozygous for an <i>Mstn</i> pathogenic variant have muscle mass intermediate between homozygous myostatin null mice and wild type mice.</div></li><li class="half_rhythm"><div>"Double-muscled" cattle previously linked to the muscular hypertrophy (mh) locus on chromosome 2 have also been found to have pathogenic variants in the gene for myostatin [<a class="bibr" href="#mstn.REF.grobet.1997.71" rid="mstn.REF.grobet.1997.71">Grobet et al 1997</a>, <a class="bibr" href="#mstn.REF.kambadur.1997.910" rid="mstn.REF.kambadur.1997.910">Kambadur et al 1997</a>].</div></li></ul></div><div id="mstn.References"><h2 id="_mstn_References_">References</h2><div id="mstn.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="mstn.REF.ferrell.1999.203">Ferrell RE, Conte V, Lawrence EC, Roth SM, Hagberg JM, Hurley BF. Frequent sequence variation in the human myostatin (GDF8) gene as a marker for analysis of muscle-related phenotypes. <span><span class="ref-journal">Genomics. </span>1999;<span class="ref-vol">62</span>:203–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/10610713" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10610713</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mstn.REF.grobet.1997.71">Grobet L, Martin LJ, Poncelet D, Pirottin D, Brouwers B, Riquet J, Schoeberlein A, Dunner S, Ménissier F, Massabanda J, Fries R, Hanset R, Georges M. A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle. <span><span class="ref-journal">Nat Genet. </span>1997;<span class="ref-vol">17</span>:71–4.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9288100" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9288100</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mstn.REF.kambadur.1997.910">Kambadur R, Sharma M, Smith TP, Bass JJ. Mutations in myostatin (GDF8) in double-muscled Belgian Blue and Piedmontese cattle. <span><span class="ref-journal">Genome Res. </span>1997;<span class="ref-vol">7</span>:910–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9314496" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9314496</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mstn.REF.mcpherron.1997.83">McPherron AC, Lawler AM, Lee SJ. Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member. <span><span class="ref-journal">Nature. </span>1997;<span class="ref-vol">387</span>:83–90.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/9139826" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 9139826</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mstn.REF.meienberg.2010.1315">Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, Arnold E, Henggeler C, Regenass S, Patrignani A, Azzarello-Burri S, Steiner B, Nygren AO, Carrel T, Steinmann B, Mátyás G. Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. <span><span class="ref-journal">Eur J Hum Genet. </span>2010;<span class="ref-vol">18</span>:1315–21.</span> [<a href="/pmc/articles/PMC3002852/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3002852</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20648054" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20648054</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mstn.REF.schmidt.2001.2289">Schmidt HH, Genschel J, Baier P, Schmidt M, Ockenga J, Tietge UJ, Pröpsting M, Büttner C, Manns MP, Lochs H, Brabant G. Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene. <span><span class="ref-journal">J Clin Endocrinol Metab. </span>2001;<span class="ref-vol">86</span>:2289–95.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11344241" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11344241</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="mstn.REF.schuelke.2004.2682">Schuelke M, Wagner KR, Stolz LE, Hübner C, Riebel T, Kömen W, Braun T, Tobin JF, Lee SJ. Myostatin mutation associated with gross muscle hypertrophy in a child. <span><span class="ref-journal">N Engl J Med. </span>2004;<span class="ref-vol">350</span>:2682–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/15215484" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15215484</span></a>]</div></p></li></ul></div></div><div id="mstn.Chapter_Notes"><h2 id="_mstn_Chapter_Notes_">Chapter Notes</h2><div id="mstn.Author_History"><h3>Author History</h3><p>Julie S Cohen, ScM, CGC (2013-present)<br />Nicole Johnson, ScM, CGC; Johns Hopkins School of Medicine (2005-2009)<br />Kathryn R Wagner, MD, PhD (2005-present)</p></div><div id="mstn.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>18 April 2019 (ma) Chapter retired: extremely rare</div></li><li class="half_rhythm"><div>3 July 2013 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>30 April 2009 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>4 October 2005 (me) Review posted live</div></li><li class="half_rhythm"><div>14 February 2005 (kw) Original submission</div></li></ul></div></div><div id="bk_toc_contnr"></div></div></div><div class="fm-sec"><h2 id="_NBK1498_pubdet_">Publication Details</h2><h3>Author Information and Affiliations</h3><div class="contrib half_rhythm"><span itemprop="author">Kathryn R Wagner</span>, MD, PhD<div class="affiliation small">Kennedy Krieger Institute<br />Department of Neurology<br />Johns Hopkins School of Medicine<br />Baltimore, Maryland<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="gro.regeirkydennek@krengaw" class="oemail">gro.regeirkydennek@krengaw</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Julie S Cohen</span>, ScM, CGC<div class="affiliation small">Kennedy Krieger Institute<br />Baltimore, Maryland<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="gro.regeirkydennek@ujnehoc" class="oemail">gro.regeirkydennek@ujnehoc</a></div></div></div><h3>Publication History</h3><p class="small">Initial Posting: <span itemprop="datePublished">October 5, 2005</span>; Last Update: <span itemprop="dateModified">July 3, 2013</span>.</p><h3>Copyright</h3><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © 1993-2025, University of Washington, Seattle. GeneReviews is
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use.</p><p class="small">For more information, see the <a href="https://www.ncbi.nlm.nih.gov/books/n/gene/GRcopyright_permiss/" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=uri">GeneReviews® Copyright Notice and Usage
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contact: <a href="mailto:dev@null" data-email="ude.wu@tssamda" class="oemail">ude.wu@tssamda</a>.</p></div></div><h3>Publisher</h3><p><a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>, Seattle (WA)</p><h3>NLM Citation</h3><p>Wagner KR, Cohen JS. Myostatin-Related Muscle Hypertrophy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2005 Oct 5 [Updated 2013 Jul 3]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. <span class="bk_cite_avail"></span></p></div><div class="small-screen-prev"><a href="/books/n/gene/myodef-sda/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M75,30 c-80,60 -80,0 0,60 c-30,-60 -30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Prev</text></svg></a></div><div class="small-screen-next"><a href="/books/n/gene/myotonia-c/?report=reader"><svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 100 100" preserveAspectRatio="none"><path d="M25,30c80,60 80,0 0,60 c30,-60 30,0 0,-60"></path><text x="20" y="28" textLength="60" style="font-size:25px">Next</text></svg></a></div></article><article data-type="table-wrap" id="figobmstnTmoleculargenetictestingusedin"><div id="mstn.T.molecular_genetic_testing_used_in" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Molecular Genetic Testing Used in Myostatin-Related Muscle Hypertrophy</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1498/table/mstn.T.molecular_genetic_testing_used_in/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__mstn.T.molecular_genetic_testing_used_in_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_mstn.T.molecular_genetic_testing_used_in_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_mstn.T.molecular_genetic_testing_used_in_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Method</th><th id="hd_h_mstn.T.molecular_genetic_testing_used_in_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Variants Detected <sup>2</sup></th><th id="hd_h_mstn.T.molecular_genetic_testing_used_in_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Variant Detection Frequency by Method <sup>3</sup></th></tr></thead><tbody><tr><td headers="hd_h_mstn.T.molecular_genetic_testing_used_in_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>MSTN</i>
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</td><td headers="hd_h_mstn.T.molecular_genetic_testing_used_in_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sequence analysis <sup>4</sup></td><td headers="hd_h_mstn.T.molecular_genetic_testing_used_in_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sequence variants including <a href="/books/NBK1498/table/mstn.T.selected_mstn_variants/?report=objectonly" target="object" rid-ob="figobmstnTselectedmstnvariants">c.506+5G>A</a> <sup>5</sup></td><td headers="hd_h_mstn.T.molecular_genetic_testing_used_in_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="mstn.TF.1.1"><p class="no_margin">See <a href="/books/NBK1498/?report=reader#mstn.molgen.TA">Table A. Genes and Databases</a> for chromosome locus and protein.</p></div></dd></dl><dl class="bkr_refwrap"><dt>2. </dt><dd><div id="mstn.TF.1.2"><p class="no_margin">See <a href="#mstn.Molecular_Genetics">Molecular Genetics</a> for information on allelic variants.</p></div></dd></dl><dl class="bkr_refwrap"><dt>3. </dt><dd><div id="mstn.TF.1.3"><p class="no_margin">The ability of the test method used to detect a variant that is present in the indicated gene</p></div></dd></dl><dl class="bkr_refwrap"><dt>4. </dt><dd><div id="mstn.TF.1.4"><p class="no_margin">Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected.. For issues to consider in interpretation of sequence analysis results, click <a href="/books/n/gene/app2/?report=reader">here</a>.</p></div></dd></dl><dl class="bkr_refwrap"><dt>5. </dt><dd><div id="mstn.TF.1.5"><p class="no_margin">The only <i>MSTN</i> causative variant related to myostatin-related muscle hypertrophy that has been reported [<a class="bibr" href="#mstn.REF.schuelke.2004.2682" rid="mstn.REF.schuelke.2004.2682">Schuelke et al 2004</a>]</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobmstnmolgenTA"><div id="mstn.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>Myostatin-Related Muscle Hypertrophy: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1498/table/mstn.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__mstn.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_mstn.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_mstn.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_mstn.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_mstn.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">Locus-Specific Databases</th><th id="hd_b_mstn.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_mstn.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_mstn.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="/gene/2660" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
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<i>MSTN</i>
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</a>
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</td><td headers="hd_b_mstn.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=2660" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">2q32<wbr style="display:inline-block"></wbr>​.2</a>
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</td><td headers="hd_b_mstn.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="http://www.uniprot.org/uniprot/O14793" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Growth/differentiation factor 8</a>
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</td><td headers="hd_b_mstn.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="https://databases.lovd.nl/shared/genes/MSTN" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">MSTN homepage - Leiden Muscular Dystrophy pages</a>
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</td><td headers="hd_b_mstn.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=MSTN" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">MSTN</a>
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</td><td headers="hd_b_mstn.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=MSTN[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">MSTN</a>
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</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div id="mstn.TFA.1"><p class="no_margin">Data are compiled from the following standard references: gene from
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<a href="http://www.genenames.org/index.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGNC</a>;
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chromosome locus from
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<a href="http://www.omim.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM</a>;
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protein from <a href="http://www.uniprot.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">UniProt</a>.
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For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click
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<a href="/books/n/gene/app1/?report=reader">here</a>.</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobmstnmolgenTB"><div id="mstn.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for Myostatin-Related Muscle Hypertrophy (<a href="/omim/601788" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">View All in OMIM</a>) </p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1498/table/mstn.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__mstn.molgen.TB_lrgtbl__"><table><tbody><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<a href="/omim/601788" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">601788</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">MYOSTATIN; MSTN</td></tr></tbody></table></div></div></article><article data-type="table-wrap" id="figobmstnTselectedmstnvariants"><div id="mstn.T.selected_mstn_variants" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Selected <i>MSTN</i> Variants</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1498/table/mstn.T.selected_mstn_variants/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__mstn.T.selected_mstn_variants_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_mstn.T.selected_mstn_variants_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Variant Classification</th><th id="hd_h_mstn.T.selected_mstn_variants_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA Nucleotide Change<br />(Alias <sup>1</sup>)</th><th id="hd_h_mstn.T.selected_mstn_variants_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted Protein Change</th><th id="hd_h_mstn.T.selected_mstn_variants_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reference<br />Sequences</th></tr></thead><tbody><tr><td headers="hd_h_mstn.T.selected_mstn_variants_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Benign</b>
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</td><td headers="hd_h_mstn.T.selected_mstn_variants_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.163G>A</td><td headers="hd_h_mstn.T.selected_mstn_variants_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ala55Thr</td><td headers="hd_h_mstn.T.selected_mstn_variants_1_1_1_4" rowspan="3" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/nuccore/149408158" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_005259<wbr style="display:inline-block"></wbr>​.2</a>
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<br />
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<a href="/protein/4885259" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_005250<wbr style="display:inline-block"></wbr>​.1</a>
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</td></tr><tr><td headers="hd_h_mstn.T.selected_mstn_variants_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">c.458A>G</td><td headers="hd_h_mstn.T.selected_mstn_variants_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Lys153Arg</td></tr><tr><td headers="hd_h_mstn.T.selected_mstn_variants_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<b>Pathogenic</b>
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</td><td headers="hd_h_mstn.T.selected_mstn_variants_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.506+5G>A<br />(IVS1+5G>A)</td><td headers="hd_h_mstn.T.selected_mstn_variants_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">--</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">Variants listed in the table have been provided by the authors. <i>GeneReviews</i> staff have not independently verified the classification of variants.</p></div></dd></dl><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin"><i>GeneReviews</i> follows the standard naming conventions of the Human Genome Variation Society (<a href="http://varnomen.hgvs.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">varnomen<wbr style="display:inline-block"></wbr>​.hgvs.org</a>). See <a href="/books/n/gene/app3/?report=reader">Quick Reference</a> for an explanation of nomenclature.</p></div></dd></dl><dl class="bkr_refwrap"><dt>1. </dt><dd><div id="mstn.TF.2.1"><p class="no_margin">Variant designation that does not conform to current naming conventions</p></div></dd></dl></dl></div></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script></div></div>
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