Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.

ABSTRACT:

Objective

Congenital myopathy as a nosologic entity has long been recognized, but knowledge of overall and subtype prevalence and phenotype-genotype relationship is scarce, especially in the adult population.

Methods

A national cohort of 107 patients ≥5 years diagnosed with congenital myopathy were prospectively assessed clinically, histologically, and genetically.

Results

Twenty-five patients were excluded because of atypical features or alternative etiologies. The remaining 82 were on average 28 years old. Histologic examination revealed 14 (17%) with core disease, 15 (18%) centronuclear myopathy, 12 (15%) nemaline rods, 27 (33%) congenital fiber-type disproportion or type I predominance, and 14 (17%) nonspecific myopathic changes. Genetic etiology was identified in

SUBMITTER: Witting N 

PROVIDER: S-EPMC5362145 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature