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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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Detalles Bibliográficos
Autores principales:	Al-Tahan, Sejad, Weiss, Lan, Yu, Howard, Tang, Sha, Saporta, Mario, Vihola, Anna, Mozaffar, Tahseen, Udd, Bjarne, Kimonis, Virginia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659134/ https://www.ncbi.nlm.nih.gov/pubmed/31403083 http://dx.doi.org/10.1212/NXG.0000000000000349

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