SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

OBJECTIVE: To identify the genetic etiology and characterize the clinicopathologic features of a novel distal myopathy. METHODS: We performed whole-exome sequencing on a family with an autosomal dominant distal myopathy and targeted exome sequencing in 1 patient with sporadic distal myopathy, both w...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Bucelli, Robert C., Arhzaouy, Khalid, Pestronk, Alan, Pittman, Sara K., Rojas, Luisa, Sue, Carolyn M., Evilä, Anni, Hackman, Peter, Udd, Bjarne, Harms, Matthew B., Weihl, Conrad C.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4553032/
https://ncbi.nlm.nih.gov/pubmed/26208961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001864
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