A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

Laing early-onset distal myopathy is a rare autosomal dominant myopathy and caused by mutations in the MYH7 gene, encoding the slow beta myosin heavy chain. We report the first molecularly verified Laing distal myopathy in a French family caused by a novel p.Glu1508del mutation in the MYH7 gene. Int...

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Veröffentlicht in:Journal of neurology 2011-06, Vol.258 (6), p.1157-1163
Hauptverfasser: Dubourg, Odile, Maisonobe, Thierry, Behin, Anthony, Suominen, Tiina, Raheem, Olayinka, Penttilä, Sini, Parton, Matt, Eymard, Bruno, Dahl, Arve, Udd, Bjarne
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Sprache:eng
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