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Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy

✍ Scribed by Friedman, Bethany; Simpson, Kara; Tesi-Rocha, Carolina; Zhou, Delu; Palmer, Cheryl A.; Suchy, Sharon F.


Book ID
122127192
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
743 KB
Volume
24
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