Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3)

OBJECTIVE: Nemaline myopathy (NM) is one of the most common congenital non-dystrophic myopathies and is characterized by muscle weakness, often from birth. Mutations in ACTA1 are a frequent cause of NM (i.e. NEM3). ACTA1 encodes alpha-actin 1, the main constituent of the sarcomeric thin filament. Th...

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Vydáno v:Ann Neurol
Hlavní autoři: Joureau, B., de Winter, J.M., Conijn, S., Bogaards, S.J.P., Kovacevic, I., Kalganov, A., Persson, M., Lindqvist, J., Stienen, G.J.M., Irving, T.C., Ma, W., Yuen, M., Clarke, N.F., Rassier, D.E., Malfatti, E., Romero, N.B., Beggs, A.H., Ottenheijm, C.A.C
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5821533/
https://ncbi.nlm.nih.gov/pubmed/29328520
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25144
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