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Article

Isolated inclusion body myopathy caused by a multisystem proteinopathy–linked <i>hnRNPA1</i> mutation

1 Oct 2015

Abstract excerpt

OBJECTIVE: To identify the genetic cause of isolated inclusion body myopathy (IBM) with autosomal dominant inheritance in 2 families. METHODS: Genetic investigations were performed using whole-exome and Sanger sequencing of the heterogeneous nuclear ribonucleoprotein A1 gene (hnRNPA1). The clinical and pathologic features of patients in the 2 families were evaluated with neurologic examinations, muscle imaging,...

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PMID: 27066560
DOI: 10.1212/nxg.0000000000000023

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