Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

ABSTRACT:

Objective

To identify causative genes for centronuclear myopathies (CNM), a heterogeneous group of rare inherited muscle disorders that often present in infancy or early life with weakness and hypotonia, using next-generation sequencing of whole exomes and genomes.

Methods

Whole-exome or -genome sequencing was performed in a cohort of 29 unrelated patients with clinicopathologic diagnoses of CNM or related myopathy depleted for cases with mutations of MTM1, DNM2, and BIN1. Immunofluorescence analyses on muscle biopsies, splicing assays, and gel electrophoresis of patient muscle proteins were performed to determine the molecular consequences of mutations of interest.

Results

Autosomal recessive compound heterozygous truncating mutations of the titin gene, TTN, were ide

SUBMITTER: Ceyhan-Birsoy O 

PROVIDER: S-EPMC3795603 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature