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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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Detalhes bibliográficos
Main Authors: Lawlor, Michael W, Ottenheijm, Coen A, Lehtokari, Vilma-Lotta, Cho, Kiyomi, Pelin, Katarina, Wallgren-Pettersson, Carina, Granzier, Henk, Beggs, Alan H
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3156646/
https://ncbi.nlm.nih.gov/pubmed/21798101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2044-5040-1-23
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