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 |
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Format: | Artikel |
Sprache: | eng |
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