Gene Symbol: MYH7
OMIM: 160760Chromosome location: 14q11.2
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| France | NA | NA | 3 patients/ 1family | NA | Richard P et al., 2000Richard P, Charron P, Leclercq C, Ledeuil C, Carrier L, Dubourg O, Desnos M, Bouhour JB, Schwartz K, Daubert JC, Komajda M, Hainque B, . Homozygotes for a R869G mutation in the beta -myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy.. J. Mol. Cell. Cardiol.. 2000; 32(8):1575-83 |
| Phenotype: | Laing distal myopathy |
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| Dna Change: | c.5185_5187delAAG |
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| Protein Change: | p.Lys1729del |
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| Mutation Type: | Deletion |
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| Mutation Effect: | |
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| Location: | exon 35 |
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| Transcript: | NM_000257.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | NA | Safor region | NA | NA | Muelas N et al., 2012Muelas N, Hackman P, Luque H, Suominen T, Espinós C, Garcés-Sánchez M, Sevilla T, Azorín I, Millán JM, Udd B, Vílchez JJ, . Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.. Clin. Genet.. 2012; 81(5):491-4 |
References
Muelas N, Hackman P, Luque H, Suominen T, Espinós C, Garcés-Sánchez M, Sevilla T, Azorín I, Millán JM, Udd B, Vílchez JJ, Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.Clin. Genet.. 2012; 81(5):491-4
Richard P, Charron P, Leclercq C, Ledeuil C, Carrier L, Dubourg O, Desnos M, Bouhour JB, Schwartz K, Daubert JC, Komajda M, Hainque B, Homozygotes for a R869G mutation in the beta -myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy.J. Mol. Cell. Cardiol.. 2000; 32(8):1575-83