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Article

Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy.

Muscle & nerve - 1 May 2002

Gurgel-Giannetti J, Bang M-L, Reed U, Marie S, Zatz M, Labeit S, Vainzof M

Abstract excerpt

The most common autosomal recessive form of nemaline myopathy is due to mutations in the nebulin gene. Among eight patients studied, we identified one, a 14-year-old girl, with a specific pattern of diffuse rods in muscle fibers. Western blot analysis detected absence of the C-terminal domain of nebulin. Protein analysis may represent a good screening method to direct molecular studies in the case of very large...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11994971
DOI: 10.1002/mus.10097

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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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