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Article

Intranuclear rods myopathy with autonomic dysfunction.

Brain & development - 1 Aug 2013

Chou Po-Ching, Liang Wen-Chen, Nonaka Ikuya, Mitsuhashi Satomi, Nishino Ichizo, Jong Yuh-Jyh

Abstract excerpt

Intranuclear rods myopathy (IRM), a variant of nemaline myopathy (NM), is characterized by rod structure in the myonuclei. Patients with IRM present with similar symptoms to those of severe infantile-type NM but have worse outcome. Several extramuscular manifestations have been reported in NM but no dysautonomia. We herein report a 2-year-old girl with IRM and a heterozygous mutation, c.430C>T (p.L144F) in ACTA1....

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Source

Identifiers

PMID: 23102861
DOI: 10.1016/j.braindev.2012.09.011

Genes

ACTA1

Variants

Provenance

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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