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Mutations in the Nebulin Gene in a Child with Nemaline (Rod) Myopathy

✍ Scribed by Seema Kapoor, Ankur Singh, Vilma-Lotta Lehtokari…


Book ID
120902580
Publisher
Springer-Verlag
Year
2012
Tongue
English
Weight
108 KB
Volume
80
Category
Article
ISSN
0019-5456

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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