Typical Congenital Nemaline Myopathy: Acta1 Pathogenic Variant

Leonardini  A. Mesina,

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.

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