Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES, CRYAB, MYOT, ZASP, FLNC, or BAG3 genes and characterized by disintegration of myofibrils and accumulation of degradation products into intracellular inclusions. We retrospectively evaluated 53 MFM patients from...

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Detalhes bibliográficos
Publicado no:Neuromuscul Disord
Principais autores: Olivé, Montse, Odgerel, Zagaa, Martínez, Amaia, Poza, Juan José, Bragado, Federico García, Zabalza, Ramón J., Jericó, Ivonne, Gonzalez-Mera, Laura, Shatunov, Alexey, Lee, Hee Suk, Armstrong, Judith, Maraví, Elías, Arroyo, Maria Ramos, Pascual-Calvet, Jordi, Navarro, Carmen, Paradas, Carmen, Huerta, Mariano, Marquez, Fabian, Gutierrez-Rivas, Eduardo, Pou, Adolf, Ferrer, Isidre, Goldfarb, Lev G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5148150/
https://ncbi.nlm.nih.gov/pubmed/21676617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2011.05.002
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