A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy

Nemaline myopathy is a rare disorder affecting the muscle sarcomere. Mutations in nebulin gene (NEB) are known to be responsible for about 50% of nemaline myopathy cases. Nebulin is a giant protein which is formed integrally with the sarcomeric thin filament. This complex gene is under extensive alt...

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Principais autores:	Nathalie Laflamme, Baiba Lace, Samarth Thonta Setty, Nadie Rioux, Yvan Labrie, Arnaud Droit, Nicolas Chrestian, Serge Rivest
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2021-06-01
coleção:	Frontiers in Neurology
Assuntos:	nemalin myopathy neuromuscular disorder alternative splicing nebulin isoforms nebulin NEB
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fneur.2021.660113/full
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