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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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Bibliografiske detaljer
Main Authors: 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
Sprog:Inglês
Udgivet: BMJ Group 2006
Fag:
Online adgang: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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