The nebulin SH3 domain is dispensable for normal skeletal muscle structure but is required for effective active load bearing in mouse

Nemaline myopathy (NM) is a congenital myopathy with an estimated incidence of 1∶50,000 live births. It is caused by mutations in thin filament components, including nebulin, which accounts for about 50% of the cases. The identification of NM cases with nonsense mutations resulting in loss of the ex...

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Hlavní autoři: Yamamoto, Daniel L., Vitiello, Carmen, Zhang, Jianlin, Gokhin, David S., Castaldi, Alessandra, Coulis, Gerald, Piaser, Fabio, Filomena, Maria Carmela, Eggenhuizen, Peter J., Kunderfranco, Paolo, Camerini, Serena, Takano, Kazunori, Endo, Takeshi, Crescenzi, Marco, Luther, Pradeep K. L., Lieber, Richard L., Chen, Ju, Bang, Marie-Louise
Médium: Artigo
Jazyk:Inglês
Vydáno: The Company of Biologists 2013
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3843138/
https://ncbi.nlm.nih.gov/pubmed/24046450
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/jcs.137026
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