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Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1
OBJECTIVE: To identify the gene mutation of tubular aggregate myopathy (TAM) and gain mechanistic insight into the pathogenesis of the disorder. METHODS: We described a family affected by autosomal dominant TAM and performed exome and Sanger sequencing to identify mutations. We further analyzed the...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817897/ https://www.ncbi.nlm.nih.gov/pubmed/27066587 http://dx.doi.org/10.1212/NXG.0000000000000050 |