Identification of 45 novel mutations in
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Vilma-Lotta Lehtokari; Katarina Pelin; Maria Sandbacka; Salla Ranta; Kati Donner
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Article
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2006
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John Wiley and Sons
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English
β 375 KB
π 1 views
Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder of skeletal muscle caused by mutations in at least five different genes encoding thin filament proteins of the striated muscle sarcomere. We have previously described 18 different mutations in the last 42 exons of the nebu