Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy

Tubular Aggregate Myopathy (TAM) is a hereditary ultra-rare muscle disorder characterized by muscle weakness and cramps or myasthenic features. Biopsies from TAM patients show the presence of tubular aggregates originated from sarcoplasmic reticulum due to altered Ca(2+) homeostasis. TAM is caused b...

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Detalles Bibliográficos
Autores principales: Conte, Elena, Pannunzio, Alessandra, Imbrici, Paola, Camerino, Giulia Maria, Maggi, Lorenzo, Mora, Marina, Gibertini, Sara, Cappellari, Ornella, De Luca, Annamaria, Coluccia, Mauro, Liantonio, Antonella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7952532/
https://www.ncbi.nlm.nih.gov/pubmed/33718371
http://dx.doi.org/10.3389/fcell.2021.635063

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7952532/
https://www.ncbi.nlm.nih.gov/pubmed/33718371
http://dx.doi.org/10.3389/fcell.2021.635063

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