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Article

Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.

Neuromuscular disorders : NMD - 1 Jul 2009

Arai Asako, Mitsuhashi Satomi, Saito Yoshiaki, Komaki Hirofumi, Sakuma Hiroshi, Nakagawa Eiji, Sugai Kenji, Sasaki Masayuki, Robertson Stephen P, Nishimura Gen, Yamamoto Toshiyuki, Nonaka Ikuya, Nishino Ichizo

Abstract excerpt

We report a 2-year-old boy who presented with marked hypotonia and was dependent on artificial ventilation since birth. He was diagnosed with nemaline (actin) myopathy, based on the cytoplasmic accumulation of thin filament aggregates and marked myofibrillar dysgenesis. Intranuclear rods and dispersed tiny nemaline bodies were also observed. The patient was shown to be heterozygous for a de novo mutation,...

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Source

Identifiers

PMID: 19553121
DOI: 10.1016/j.nmd.2009.06.366

Genes

ACTA1

Variants

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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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Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.PMID 19553121Read ↗

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Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.Semantic proximity Read ↗

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.Semantic proximity Read ↗

Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).Semantic proximity Read ↗

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

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