Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.

ABSTRACT:

Background

Autosomal dominant (AD) central core disease (CCD) is a congenital myopathy characterised by the presence of cores in the muscle fibres which correspond to broad areas of myofibrils disorganisation, Z-line streaming and lack of mitochondria. Heterozygous mutations in the RYR1 gene were observed in the large majority of AD-CCD families; however, this gene was excluded in some of AD-CCD families.

Objective

To enlarge the genetic spectrum of AD-CCD demonstrating mutations in an additional gene.

Patients and methods

Four affected AD family members over three generations, three of whom were alive and participate in the study: the mother and two of three siblings. The symptoms began during the early childhood with mild delayed motor development. Later they develo

SUBMITTER: Romero NB 

PROVIDER: S-EPMC4173876 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature