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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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 and complex genes such as the large 1298 kb nebulin gene.

Original languageEnglish
Pages (from-to)747-752
Number of pages6
JournalMuscle and Nerve
Volume25
Issue number5
DOIs
Publication statusPublished - 2002

Keywords

  • Congenital myopathies
  • Nebulin
  • Nemaline myopathy
  • Western blot

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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