INTRODUCTION: @entity121 due to mutations in the a-actin 1 gene ( @entity1970 ) was identified in 1999, but knowledge of prevalence and phenotype in @entity1 who survive 5 years is lacking. METHODS: A national cohort of 91 @entity1 aged >= 5 years and diagnosed with @entity121 was assessed for @entity1970 mutations and investigated clinically. RESULTS: Four @entity1 with @entity1970 mutations were identified, yielding a prevalence of 4.4%. @entity1 were 10-23 years of age, and all but 1 were ambulatory. Vital capacity ranged from 47% to 70% predicted, and 1 @entity1 needed nocturnal bi-level positive airway pressure. Limb flexor/extensor muscles and upper and lower extremities were affected equally. Pronounced neck flexor weakness was noted. CONCLUSIONS: @entity121 caused by @entity1970 mutations is fatal in infancy in most cases. This study shows that the prevalence of a-actin @entity121 in older @entity1 with @entity121 is not negligible and that phenotypes can be quite mild. Muscle Nerve, 2015.

Prevalence and phenotypes of XXXX due to a-actin 1 gene mutations.

@entity1 :: ('9606', 'Species') :: ['Patients', 'patients', 'patient'] @entity121 :: ('MESH:D009135', 'Disease') :: ['Congenital myopathy', 'myopathy', 'congenital myopathy'] @entity1970 :: ('58', 'Gene') :: ['ACTA1']
@entity121 :: (MESH:D009135,Disease) :: ['congenital myopathy']
