Cytoplasmic body pathology in severe ACTA1 -related myopathy in the absence of typical nemaline rods
Abstract
Mutations in ACTA1 cause a group of myopathies with expanding clinical and histopathological heterogeneity. We describe three patients with severe ACTA1-related myopathy who have muscle fiber cytoplasmic bodies but no classic nemaline rods. Patient 1 is a five-year-old boy who presented at birth with severe weakness and respiratory failure, requiring mechanical ventilation. Whole exome sequencing identified a heterozygous c.282C>A (p.Asn94Lys)...
Paper Details
Title
Cytoplasmic body pathology in severe ACTA1 -related myopathy in the absence of typical nemaline rods
Published Date
Jun 1, 2017
Journal
Volume
27
Issue
6
Pages
531 - 536
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