Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits

Mutations in the Anoctamin 5 (Ano5) gene that result in the lack of expression or function of ANO5 protein, cause Limb Girdle Muscular Dystrophy (LGMD) 2L/R12, and Miyoshi Muscular Dystrophy (MMD3). However, the dystrophic phenotype observed in patient muscles is not uniformly recapitulated by ANO5...

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Detalles Bibliográficos
Autores principales: Thiruvengadam, Girija, Sreetama, Sen Chandra, Charton, Karine, Hogarth, Marshall, Novak, James S., Suel-Petat, Laurence, Chandra, Goutam, Allard, Bruno, Richard, Isabelle, Jaiswal, Jyoti K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2021
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8673513/
https://www.ncbi.nlm.nih.gov/pubmed/34633328
http://dx.doi.org/10.3233/JND-210720

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