Cargando…
Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene
BACKGROUND: Nemaline myopathy (NM), the most common non-dystrophic congenital myopathy, is characterized by generalized skeletal muscle weakness, often from birth. To date, no therapy exists that enhances the contractile strength of muscles of NM patients. Mutations in NEB, encoding the giant protei...
Autores principales: | de Winter, Josine M, Joureau, Barbara, Sequeira, Vasco, Clarke, Nigel F, van der Velden, Jolanda, Stienen, Ger JM, Granzier, Henk, Beggs, Alan H, Ottenheijm, Coen AC |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422316/ https://www.ncbi.nlm.nih.gov/pubmed/25949787 http://dx.doi.org/10.1186/s13395-015-0037-7 |
Ejemplares similares
-
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations
por: de Winter, Josine Marieke, et al.
Publicado: (2013) -
Sarcomere Dysfunction in Nemaline Myopathy
por: de Winter, Josine M., et al.
Publicado: (2017) -
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy
por: Lawlor, Michael W, et al.
Publicado: (2011) -
Omecamtiv mecarbil lowers the contractile deficit in a mouse model of nebulin-based nemaline myopathy
por: Lindqvist, Johan, et al.
Publicado: (2019) -
Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism
por: Lindqvist, Johan, et al.
Publicado: (2020)