Myosin Heavy Chain 7, Cardiac Muscle, Beta (MYH7)

CMD1S; CMH1; MPD1; MYHCB; Myopathy,Distal 1; Myosin heavy chain slow isoform; Myosin heavy chain, cardiac muscle beta isoform

SPN	T364
HGNC	7577
MGI	2155600
PubMed	12788380
RGD	62030
UniProt	P12883
Wiki	MYH7

MYH7 is a gene encoding a myosin heavy chain beta (MHC-β) isoform (slow twitch) expressed primarily in the heart.In early fetal development, MHC-β is predominately expressed in the ventricles, while MHC-α is predominantly expressed in the atria. In healthy adult hearts, MHC-α is predominantly expressed in the atria (>90%), while MHC-β (~50%) is expressed in the atria of failing adult hearts. In vitro studies have demonstrated that newly formed cardiac myocytes express MHC-β, and after prolonged (1-5 weeks) contractile activity MHC-α becomes detectable. An allelic variant of this gene is associated with approximately 40% of the cases of Hypertrophic cardiomyopathy (HCM). This condition is an autosomal-dominant disease, in which a single copy of the variant gene causes enlargement of the left ventricle of the heart.

Reference

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Erratum
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Heart 80:548-558(1998) [PubMed] [Europe PMC] [Abstract]

Erratum
Heart 81:330-330(1999)

"A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes."
Hum. Genet. 102:299-304(1998) [PubMed] [Europe PMC] [Abstract]

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"The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population."
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Am. J. Hum. Genet. 65:1308-1320(1999) [PubMed] [Europe PMC] [Abstract]

"Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene."
Clin. Genet. 56:244-246(1999) [PubMed] [Europe PMC] [Abstract]

"Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain."
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"A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy."
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"The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation."
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"Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy."
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"Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy."
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"Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy."
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"Myosin storage myopathy associated with a heterozygous missense mutation in MYH7."
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"Hypertrophic cardiomyopathy: two homozygous cases with 'typical' hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."
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Erratum
Circulation 109:3258-3258(2004)

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Clin. Genet. 64:339-349(2003) [PubMed] [Europe PMC] [Abstract]

"Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations."
Genet. Test. 7:21-27(2003) [PubMed] [Europe PMC] [Abstract]

"Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis."
Heart 89:1179-1185(2003) [PubMed] [Europe PMC] [Abstract]

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"Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden."
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Unpublished observations (OCT-2004)

"Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1)."
Am. J. Hum. Genet. 75:703-708(2004) [PubMed] [Europe PMC] [Abstract]

"Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy."
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"Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy."
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"Mutations profile in Chinese patients with hypertrophic cardiomyopathy."
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"Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene."
Eur. Heart J. 26:794-803(2005) [PubMed] [Europe PMC] [Abstract]

"One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations in MYH7 rod region."
Eur. J. Hum. Genet. 13:161-165(2005) [PubMed] [Europe PMC] [Abstract]

"Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease."
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"Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling."
J. Med. Genet. 42:E59-E59(2005) [PubMed] [Europe PMC] [Abstract]

"Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy."
J. Mol. Med. 83:468-477(2005) [PubMed] [Europe PMC] [Abstract]

"Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy."
Clin. Genet. 69:434-436(2006) [PubMed] [Europe PMC] [Abstract]

"Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene."
Rev. Esp. Cardiol. 59:846-849(2006) [PubMed] [Europe PMC] [Abstract]

"Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy."
Neurology 68:962-962(2007) [PubMed] [Europe PMC] [Abstract]

"New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7."
Neurology 68:2041-2042(2007) [PubMed] [Europe PMC] [Abstract]

"MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy."
Neuromuscul. Disord. 17:321-329(2007) [PubMed] [Europe PMC] [Abstract]

"Shared genetic causes of cardiac hypertrophy in children and adults."
N. Engl. J. Med. 358:1899-1908(2008) [PubMed] [Europe PMC] [Abstract]

"Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy."
Eur. J. Med. Genet. 54:E570-E575(2011) [PubMed] [Europe PMC] [Abstract]

"Hypertrophic cardiomyopathy: a new mutation illustrates the need for family-centered care."
Pediatr. Cardiol. 35:1474-1477(2014) [PubMed] [Europe PMC] [Abstract]