Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation.

ABSTRACT:

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, and muscle biopsy.

Results

We identified a missense p.D314N mutation in hnRNPA1, which is also known to cause familial amyotrophic lateral sclerosis, in 2 families with IBM. The affected individuals developed muscle weakness in their 40s, which slowly progressed toward a limb-girdle pattern. Further evaluation of the affected individuals revealed no apparent moto

SUBMITTER: Izumi R 

PROVIDER: S-EPMC4809462 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature