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P.9.8 Nemaline myopathy: Mutations in alternatively spliced exons of the nebulin gene

✍ Scribed by Lehtokari, V.L.; Laitila, J.; Hanif, M.; Pelin, K.; Wallgren-Pettersson, C.


Book ID
122632945
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
59 KB
Volume
23
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