Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

BACKGROUND: Nemaline myopathy (NM) is a congenital muscle disease associated with weakness and the presence of nemaline bodies (rods) in muscle fibers. Mutations in seven genes have been associated with NM, but the most commonly mutated gene is nebulin (NEB), which is thought to account for roughly...

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Detalles Bibliográficos
Autores principales: Lawlor, Michael W, Ottenheijm, Coen A, Lehtokari, Vilma-Lotta, Cho, Kiyomi, Pelin, Katarina, Wallgren-Pettersson, Carina, Granzier, Henk, Beggs, Alan H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156646/
https://www.ncbi.nlm.nih.gov/pubmed/21798101
http://dx.doi.org/10.1186/2044-5040-1-23

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