OMIM: 160500Inheritance: Autosomal dominant
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | MYH7 |
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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