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Mutations in the nebulin gene can cause severe congenital nemaline myopathy

✍ Scribed by Carina Wallgren-Pettersson; Kati Donner; Caroline Sewry; Emilia Bijlsma; Martin Lammens; Kate Bushby; Maria Luisa Giovannucci Uzielli; Elisabetta Lapi; Sylvie Odent; Zuhal Akcoren; Haluk Topaloğlu; Katarina Pelin


Book ID
117669587
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
227 KB
Volume
12
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