Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.

Abstract excerpt

INTRODUCTION: Congenital myopathy due to mutations in the α-actin 1 gene (ACTA1) was identified in 1999, but knowledge of prevalence and phenotype in patients who survive 5 years is lacking. METHODS: A national cohort of 91 patients aged ≥5 years and diagnosed with congenital myopathy was assessed for ACTA1 mutations and investigated clinically. RESULTS: Four patients with ACTA1 mutations were identified,...

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