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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📜 SIMILAR VOLUMES
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