Article
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.
Neurology - 25 Aug 2015
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
Abstract excerpt
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 with rimmed vacuolar pathology. We also evaluated the pathogenicity of identified mutations using...
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