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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Detalles Bibliográficos
Autores principales: Laflamme, Nathalie, Lace, Baiba, Thonta Setty, Samarth, Rioux, Nadie, Labrie, Yvan, Droit, Arnaud, Chrestian, Nicolas, Rivest, Serge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8239344/
https://www.ncbi.nlm.nih.gov/pubmed/34211429
http://dx.doi.org/10.3389/fneur.2021.660113

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8239344/
https://www.ncbi.nlm.nih.gov/pubmed/34211429
http://dx.doi.org/10.3389/fneur.2021.660113

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