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Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

✍ Scribed by Carina Wallgren-Pettersson; Katarina Pelin; Pirta Hilpelä; Kati Donner; Berardino Porfirio; Claudio Graziano; Kathryn J. Swoboda; Michel Fardeau; J.Andoni Urtizberea; Francesco Muntoni; Caroline Sewry; Victor Dubowitz; Susan Iannaccone; Carlo Minetti; Marina Pedemonte; Marco Seri; Roberto Cusano; Martin Lammens; Avril Castagna-Sloane; Alan H. Beggs; Nigel G. Laing; Albert de la Chapelle


Book ID
117671073
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
286 KB
Volume
9
Category
Article
ISSN
0960-8966

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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