Intranuclear nemaline rod myopathy

Vassil Kaimaktchiev, Hans Goebel, Nigel Laing, Michael Narus, Douglas Weeks, Randal Nixon

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

The clinical, pathologic, and genetic findings of a boy with intranuclear nemaline rod myopathy are described. Serial muscle biopsies revealed myocyte nuclei containing inclusions that were immunoreactive for α-actinin and increased with age. Genetic analysis revealed a Val163Leu ACTA1 mutation previously associated with nemaline rod myopathy. Although initially delayed, he has reached all milestones and remains stable. These findings suggest intranuclear rods may increase with time and do not necessarily imply a poor prognosis.

Original languageEnglish (US)
Pages (from-to)369-372
Number of pages4
JournalMuscle and Nerve
Volume34
Issue number3
DOIs
StatePublished - Sep 1 2006

Keywords

  • ACTA1 mutations
  • Actin
  • Congenital myopathies
  • Intranuclear rod myopathy
  • Nemaline rod myopathy

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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