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Article

Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.

Neuromuscular disorders : NMD - 1 Jul 2009

Garcia-Angarita Natalia, Kirschner Janbernd, Heiliger Mandy, Thirion Christian, Walter Maggie C, Schnittfeld-Acarlioglu Susanne, Albrecht Matthias, Müller Klaus, Wieczorek Dagmar, Lochmüller Hanns, Krause Sabine

Abstract excerpt

Nemaline myopathy is among the most common congenital myopathies. We describe for the first time a novel double de novo mutation in two adjacent codons resulting in two amino acid changes E74D and H75Y in the ACTA1 gene. The hypotonic male infant was the first son of healthy unrelated parents with no family history of neuromuscular disorders. Pregnancy was complicated: decreased fetal movements were noted on the...

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Source

Identifiers

PMID: 19553116
DOI: 10.1016/j.nmd.2009.05.001

Genes

ACTA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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