Congenital myopathies: Natural history of a large pediatric cohort.

ABSTRACT:

Objective

To assess the natural history of congenital myopathies (CMs) due to different genotypes.

Methods

Retrospective cross-sectional study based on case-note review of 125 patients affected by CM, followed at a single pediatric neuromuscular center, between 1984 and 2012.

Results

Genetic characterization was achieved in 99 of 125 cases (79.2%), with RYR1 most frequently implicated (44/125). Neonatal/infantile onset was observed in 76%. At birth, 30.4% required respiratory support, and 25.2% nasogastric feeding. Twelve percent died, mainly within the first year, associated with mutations in ACTA1, MTM1, or KLHL40. All RYR1-mutated cases survived and did not require long-term ventilator support including those with severe neonatal onset; however, recessive cases wer

SUBMITTER: Colombo I 

PROVIDER: S-EPMC4336094 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature