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Article

Rod distribution and muscle fiber type modification in the progression of nemaline myopathy.

Journal of child neurology - 1 Mar 2003

Gurgel-Giannetti Juliana, Reed Umbertina C, Marie Sueli K, Zanoteli Edmar, Fireman Moacir A T, Oliveira Acary S B, Werneck Lineu C, Beggs Alan H, Zatz Mayana, Vainzof Mariz

Abstract excerpt

Nemaline myopathy is a structural congenital myopathy associated with the presence of rodlike structures inside the muscle fibers and type I predominance. It may be caused by mutations in at least five genes: slow alpha-tropomyosin 3 (chromosome 1q22-23), nebulin (chromosome 2q21.1-q22), actin (chromosome 1q42), tropomyosin 2 (chromosome 9p13), and troponin T1 (chromosome 19q13.4). The effect of these mutations...

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Source

Identifiers

PMID: 12731651
DOI: 10.1177/08830738030180031501

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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.

Related research

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Rod distribution and muscle fiber type modification in the progression of nemaline myopathy.PMID 12731651Read ↗

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Recent advances in nemaline myopathy.Semantic proximity Read ↗

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Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center.Semantic proximity Read ↗

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

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.Semantic proximity Read ↗

A mutation in alpha-tropomyosinslow affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathySemantic proximity Read ↗

Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci.Semantic proximity Read ↗

Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy.Semantic proximity Read ↗

A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.Semantic proximity Read ↗

Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.Semantic proximity Read ↗

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