Intranuclear nemaline rod myopathy

V. Kaimaktchiev, H. Goebel, Nigel Laing, M. Narus, D. Weeks, R. Nixon

Research output: Contribution to journalArticle

20 Citations (Scopus)

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 a-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
Pages (from-to)369-372
JournalMUSCLE & NERVE
Volume34
Issue number3
DOIs
Publication statusPublished - 2006

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    Kaimaktchiev, V., Goebel, H., Laing, N., Narus, M., Weeks, D., & Nixon, R. (2006). Intranuclear nemaline rod myopathy. MUSCLE & NERVE, 34(3), 369-372. https://doi.org/10.1002/mus.20521