Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1.

ABSTRACT:

Objective

To identify the gene mutation of tubular aggregate myopathy (TAM) and gain mechanistic insight into the pathogenesis of the disorder.

Methods

We described a family affected by autosomal dominant TAM and performed exome and Sanger sequencing to identify mutations. We further analyzed the functional significance of the identified mutation by expression studies and intracellular Ca(2+) measurements.

Results

A 42-year-old man presented with slowly progressive muscle weakness and atrophy in all 4 limbs and the trunk. Muscle biopsy and microscopic examination revealed tubular aggregates in his skeletal muscle. Genetic analysis of this family identified a novel heterozygous mutation, c.1450_1451insGA (p.Ile484ArgfsX21), in stromal interaction molecule 1 (STIM1), a

SUBMITTER: Okuma H 

PROVIDER: S-EPMC4817897 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature