A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.

ABSTRACT:

Objective

To identify the genetic defects present in 3 families with muscular dystrophy, contractures, and calpain 3 deficiency.

Methods

We performed targeted exome sequencing on one patient presenting a deficiency in calpain 3 on Western blot but for which mutations in the gene had been excluded. The identification of a homozygous truncating mutation in the M-line part of titin prompted us to sequence this region in 2 additional patients presenting similar clinical and biochemical characteristics.

Results

The 3 patients shared similar features: coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy. The biopsies showed rimmed vacuoles, a dystrophic pattern, and secondary reduction in calpain 3. We identified a novel homo

SUBMITTER: De Cid R 

PROVIDER: S-EPMC4691685 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature