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Nebulin mutations in autosomal recessive nemaline myopathy: an update

✍ Scribed by Katarina Pelin; Kati Donner; Maria Holmberg; Heinz Jungbluth; Francesco Muntoni; Carina Wallgren-Pettersson


Book ID
117669588
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
344 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