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Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features
OBJECTIVE: The aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on two different chromosomes; and to highlight...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868303/ https://www.ncbi.nlm.nih.gov/pubmed/29599744 http://dx.doi.org/10.3389/fneur.2018.00147 |