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Article

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

Neuropediatrics - 1 Dec 2007

Koy A, Ilkovski B, Laing N, North K, Weis J, Neuen-Jacob E, Mayatepek E, Voit T

Abstract excerpt

Nemaline myopathies (NM) are a rare group of muscle disorders, but represent one of the most common forms of congenital myopathy. The clinical picture ranges from severe muscular hypotonia often leading to death during childhood to mild forms with long life expectancy. Diagnosis is made by muscle biopsy showing characteristic sarcoplasmic and sometimes intranuclear rod bodies. So far, disease-associated mutations...

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Source

Identifiers

PMID: 18461503
DOI: 10.1055/s-2008-1065356

Genes

ACTA1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H).PMID 18461503Read ↗

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Like father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotype.Semantic proximity Read ↗

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