Intranuclear rod myopathy, a rare and morphologically striking variant of nemaline rod myopathy

Douglas Weeks, Randal R. Nixon, Vassil Kaimaktchiev, Gary W. Mierau

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

A 4-year-old boy with muscle weakness underwent skeletal muscle biopsies. Light microscopy showed distinct eosinophilic inclusions within the majority of muscle cell nuclei, but none in the cytoplasm. Electron microscopy revealed crystalline, round to rod-shaped inclusions in the muscle cell nuclei. The inclusions stained positively for alpha-actinin. Intranuclear inclusions identical to those seen here have been described in rare cases of nemaline rod myopathy, though almost always together with classic intracytoplasmic rods. This case illustrates the importance of electron microscopy in the diagnosis of rare myopathies and in the characterization of cellular inclusions of unknown origin.

Original languageEnglish (US)
Pages (from-to)151-154
Number of pages4
JournalUltrastructural Pathology
Volume27
Issue number3
DOIs
StatePublished - May 2003

Fingerprint

Nemaline Myopathies
Cell Nucleus
Muscle Cells
Electron Microscopy
rods
inclusions
Muscle
Actinin
Intranuclear Inclusion Bodies
Inclusion Bodies
Muscle Weakness
Muscular Diseases
muscle cells
Microscopy
Cytoplasm
Skeletal Muscle
Electron microscopy
electron microscopy
Biopsy
Light

Keywords

  • Electron microscopy
  • Intranuclear rod myopathy
  • Nemaline rod myopathy

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Instrumentation
  • Structural Biology

Cite this

Intranuclear rod myopathy, a rare and morphologically striking variant of nemaline rod myopathy. / Weeks, Douglas; Nixon, Randal R.; Kaimaktchiev, Vassil; Mierau, Gary W.

In: Ultrastructural Pathology, Vol. 27, No. 3, 05.2003, p. 151-154.

Research output: Contribution to journalArticle

Weeks, Douglas ; Nixon, Randal R. ; Kaimaktchiev, Vassil ; Mierau, Gary W. / Intranuclear rod myopathy, a rare and morphologically striking variant of nemaline rod myopathy. In: Ultrastructural Pathology. 2003 ; Vol. 27, No. 3. pp. 151-154.
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