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New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy
OBJECTIVE: We clinically and molecularly characterize a new family with autosomal dominant rimmed vacuolar myopathy (RVM) caused by mutations in the HSPB8 gene. METHODS: We performed whole-exome and whole-genome sequencing in the family. Western blot and immunocytochemistry were used to analyze 3 pa...
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| Publicado no: | Neurol Genet |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6659134/ https://ncbi.nlm.nih.gov/pubmed/31403083 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000349 |
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