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Article

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.

Neurology - 3 Apr 2012

Jain R K, Jayawant S, Squier W, Muntoni F, Sewry C A, Manzur A, Quinlivan R, Lillis S, Jungbluth H, Sparrow J C, Ravenscroft G, Nowak K J, Memo M, Marston S B, Laing N G

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Share to Fatal Outcome
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Share to Cardiomyopathy and Myosin Studies
Share to ACTA1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myopathies, Nemaline

Source

Identifiers

PMID: 22442437
DOI: 10.1212/WNL.0b013e31824e8ebe

Genes

ACTA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.PMID 22442437Read ↗

Novel deletion in the ACTA1 gene associated with milder phenotype of nemaline myopathy in Chinese patient: a case report.Semantic proximity Read ↗

A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult.Semantic proximity Read ↗

Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.Semantic proximity Read ↗

A new mutation in the ACTA1 gene possibly associated with dilated cardiomyopathy without concomitant myopathy.Semantic proximity Read ↗

Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects.Semantic proximity Read ↗

Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.Semantic proximity Read ↗

Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation.Semantic proximity Read ↗

Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.Semantic proximity Read ↗

Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H).Semantic proximity Read ↗

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.Semantic proximity Read ↗

Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report.Semantic proximity Read ↗

Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.Semantic proximity Read ↗

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