Cargando…
Natural history of LGMD2A for delineating outcome measures in clinical trials
OBJECTIVE: Limb‐girdle muscular dystophy 2A (LGMD2A, OMIM) is a slowly progressive myopathy caused by the deficiency in calpain 3, a calcium‐dependent cysteine protease of the skeletal muscle. METHODS: In this study, we carried out an observational study of clinical manifestations and disease progre...
Autores principales: | Richard, Isabelle, Hogrel, Jean‐Yves, Stockholm, Daniel, Payan, Christine A. M., Fougerousse, Françoise, Eymard, Bruno, Mignard, Claude, Lopez de Munain, Adolfo, Fardeau, Michel, Urtizberea, Jon Andoni |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818744/ https://www.ncbi.nlm.nih.gov/pubmed/27081656 http://dx.doi.org/10.1002/acn3.287 |
Ejemplares similares
-
A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome
por: Blandin, Gaëlle, et al.
Publicado: (2013) -
Iranian neurological events: The second Iranian congress of neuromuscular disorders
por: Urtizberea, Jon Andoni
Publicado: (2012) -
LGMD. Identification, description and classification
por: Angelini, Corrado
Publicado: (2020) -
Metabolic Myopathies in the Era of Next-Generation Sequencing
por: Urtizberea, Jon Andoni, et al.
Publicado: (2023) -
Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India
por: Ganaraja, Valakunja H., et al.
Publicado: (2021)