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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Main Authors: Martinsson, Tommy, Oldfors, Anders, Darin, Niklas, Berg, Kerstin, Tajsharghi, Homa, Kyllerman, Mårten, Wahlström, Jan
Format: Artigo
Jezik:Inglês
Izdano: The National Academy of Sciences 2000
Teme:
Biological Sciences
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC18967/
https://ncbi.nlm.nih.gov/pubmed/11114175
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