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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Chongqing Medical University
2022
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| Materias: | |
| 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 |