Gene: MYH7

Alternate names for this Gene: CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM

Gene Summary: Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: myosin heavy chain 7

Type of Gene: protein-coding

Gene: MHRT

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs397516232 in MYH7;MHRT gene and CARDIOMYOPATHY, DILATED, 1S PMID 15769782 2005 Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.

PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

PMID 21127202 2011 Mutations in the sarcomere gene MYH7 in Ebstein anomaly.

PMID 12379228 2002 Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

PMID 18506004 2008 Mutations in sarcomere protein genes in left ventricular noncompaction.

PMID 11106718 2000 Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.

rs397516248 in MYH7;MHRT gene and Cardiomyopathy, Dilated PMID 22918376 2013 Myosinopathies: pathology and mechanisms.

PMID 19477645 2009 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

PMID 25576864 2015 A rare mutation in MYH7 gene occurs with overlapping phenotype.

PMID 24664454 2014 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

rs121913652 in MYH7;MHRT gene and Cardiomyopathy, Familial Hypertrophic, 1 (disorder) PMID 8282798 1994 Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.

PMID 10329202 1999 Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain.

PMID 1417858 1992 Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy.

PMID 11133230 2001 Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.

PMID 12818575 2003 Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

PMID 11113006 2000 Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene.

PMID 10862102 2000 Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 9829907 1998 Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.

PMID 10065021 1998 Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.

PMID 12566107 2003 Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.

PMID 15358028 2004 Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

PMID 12975413 2003 Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.

PMID 11733062 2001 The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.

PMID 1638703 1992 Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.

PMID 12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PMID 8268932 1993 Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

PMID 12951062 2003 "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."

PMID 8899546 1996 Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy.

PMID 16267253 2005 Gene mutations in apical hypertrophic cardiomyopathy.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 14607462 2003 American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines.

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

PMID 21810866 2011 HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

rs397516220 in MYH7;MHRT gene and Cardiomyopathy, Hypertrophic, Familial PMID 26094647 2015 Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy.

PMID 21279644 2011 A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient.

PMID 27387980 2016 MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

PMID 25576864 2015 A rare mutation in MYH7 gene occurs with overlapping phenotype.

PMID 19477645 2009 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 28855170 2017 A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 24664454 2014 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

rs397516220 in MYH7;MHRT gene and Distal Myopathy 1 PMID 19477645 2009 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

PMID 15322983 2004 Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

PMID 21279644 2011 A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient.

rs28933098 in MYH7;MHRT gene and Hypertrophic Cardiomyopathy PMID 19336582 2009 Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.

PMID 14520662 2003 Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.

PMID 15699387 2005 Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.

PMID 17118657 2006 Myosin storage (hyaline body) myopathy: a case report.

PMID 17336526 2007 MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.

PMID 20376763 2010 [Myosin storage myopathy: a rare subtype of protein aggregate myopathies].

rs397516248 in MYH7;MHRT gene and Left ventricular noncompaction cardiomyopathy PMID 19477645 2009 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

PMID 24664454 2014 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

rs121913649 in MYH7;MHRT gene and MYOPATHY, MYOSIN STORAGE (disorder) PMID 16684601 2006 Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.

PMID 15136674 2004 Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.

PMID 17336526 2007 MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.

PMID 14520662 2003 Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.

PMID 17336526 2007 MYH7 gene studies revealed the 5533C>T mutation (Arg1845Trp) in both myosin storage myopathy and in 2 of the 17 scapulo-peroneal patients studied.

rs397516248 in MYH7;MHRT gene and Neuromuscular Diseases PMID 25576864 2015 A rare mutation in MYH7 gene occurs with overlapping phenotype.

PMID 24664454 2014 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

PMID 19477645 2009 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.

PMID 22918376 2013 Myosinopathies: pathology and mechanisms.

rs28933098 in MYH7;MHRT gene and X-Linked Emery-Dreifuss Muscular Dystrophy PMID 17336526 2007 MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.