Autosomal dominant myopathy: Missense mutation (Glu-706 → Lys) in the myosin heavy chain IIa gene

We here report on a human myopathy associated with a mutation in a fast myosin heavy chain (MyHC) gene, and also the genetic defect in a hereditary inclusion body myopathy. The disorder has previously been described in a family with an “autosomal dominant myopathy, with joint contractures, ophthalmo...

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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Martinsson, Tommy, Oldfors, Anders, Darin, Niklas, Berg, Kerstin, Tajsharghi, Homa, Kyllerman, Mårten, Wahlström, Jan
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 2000
Assuntos:	Biological Sciences
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC18967/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11114175/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.250289597
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