ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies

Anoctamin-5 (ANO5) is a multi-pass membrane protein localized to the sarcolemma and the sarcoplasmic reticulum. Mutations were linked to rare autosomal recessive muscle diseases. Here, we summarize the clinical spectrum, imaging data and molecular research findings as well as results of animal model...

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Detalles Bibliográficos
Autores principales: Christiansen, Jon, Güttsches, Anne-Katrin, Schara-Schmidt, Ulrike, Vorgerd, Matthias, Heute, Christoph, Preusse, Corinna, Stenzel, Werner, Roos, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2022
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9485283/
https://www.ncbi.nlm.nih.gov/pubmed/36157496
http://dx.doi.org/10.1016/j.gendis.2022.01.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9485283/
https://www.ncbi.nlm.nih.gov/pubmed/36157496
http://dx.doi.org/10.1016/j.gendis.2022.01.001

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