Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

BACKGROUND: Laing early onset distal myopathy (MPD1) is an autosomal dominant myopathy caused by mutations within the slow skeletal muscle fibre myosin heavy chain gene, MYH7. It is allelic with myosin storage myopathy, with the commonest form of familial hypertrophic cardiomyopathy, and with one fo...

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Autors principals: Lamont, P J, Udd, B, Mastaglia, F L, de Visser, M, Hedera, P, Voit, T, Bridges, L R, Fabian, V, Rozemuller, A, Laing, N G
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2006
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Paper
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2077563/
https://ncbi.nlm.nih.gov/pubmed/16103042
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2005.073825
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