Typical congenital nemaline myopathy: ACTA1 pathogenic variant

ABSTRACT

@#Nemaline myopathy (NM) is a primary muscle disorder presenting with proximal muscles weakness at birth or infancy and gross motor delay. This is a case report of a sixteen year old male who presented with proximal muscle weakness at 5 months of age. His gene testing revealed ACTA1 gene mutation, which is associated with nemaline myopathy. He presented with a relatively benign and slowly progressive course of weakness, not complicated by respiratory or cardiac symptoms.