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Neuromuscul Disord. 2013 Mar;23(3):239-42. doi: 10.1016/j.nmd.2012.12.004. Epub 2013 Jan 8.

A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations.

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  • 1Genetics and Metabolism Program, University of Manitoba, Winnipeg, Manitoba, Canada.

Abstract

We describe the presentation and six-year follow up of a child with nemaline myopathy due to a de novo mutation in the skeletal muscle α-actin gene (ACTA1) characterized by dramatic improvement during the early childhood years. The presentation in this female patient was infantile-onset weakness in the facial, bulbar, respiratory and neck flexor muscles. A six-year follow-up revealed continued progressive improvement in her muscle strength. Based upon the histopathologic and ultrastructural features of nemaline rod disease, ACTA1 was sequenced. This revealed a mutation in exon 4 of ACTA1 (c.557A>G). Our report further expands the phenotypic spectrum associated with ACTA1 mutations. Although it is difficult to infer any genotype-phenotype correlation, this report stimulates the discussion regarding the pathophysiologic mechanism of the clinical improvement seen in some patients with ACTA1 mutations.

Copyright © 2012 Elsevier B.V. All rights reserved.

PMID:
23305948
[PubMed - indexed for MEDLINE]
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