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Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations

BACKGROUND: Nemaline myopathy (NM) is a rare genetic muscle disorder, but one of the most common among the congenital myopathies. NM is caused by mutations in at least nine genes: Nebulin (NEB), α-actin (ACTA1), α-tropomyosin (TPM3), β-tropomyosin (TPM2), troponin T (TNNT1), cofilin-2 (CFL2), Kelch...

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Detalles Bibliográficos
Autores principales: Marttila, Minttu, Hanif, Mubashir, Lemola, Elina, Nowak, Kristen J, Laitila, Jenni, Grönholm, Mikaela, Wallgren-Pettersson, Carina, Pelin, Katarina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4126377/
https://www.ncbi.nlm.nih.gov/pubmed/25110572
http://dx.doi.org/10.1186/2044-5040-4-15