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A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies
MYH7 mutations are an established cause of Laing distal myopathy, myosin storage myopathy, and cardiomyopathy, as well as additional myopathy subtypes. We report a novel MYH7 mutation (p.Leu1597Arg) that arose de novo in two unrelated probands. Proband 1 has a myopathy characterized by distal weakne...
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| Autors principals: | , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4103162/ https://ncbi.nlm.nih.gov/pubmed/23478172 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2013.02.009 |
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