An unusual myopathy: speckled muscle fibers due to enlarged mitochondria

Jeffree, Rosalind L., Wills, Edward J. and Harper, Clive (2007) An unusual myopathy: speckled muscle fibers due to enlarged mitochondria. Muscle and Nerve, 36 1: 118-122. doi:10.1002/mus.20740

Author Jeffree, Rosalind L.
Wills, Edward J.
Harper, Clive
Title An unusual myopathy: speckled muscle fibers due to enlarged mitochondria
Journal name Muscle and Nerve   Check publisher's open access policy
ISSN 0148-639X
Publication date 2007-07-01
Sub-type Article (original research)
DOI 10.1002/mus.20740
Open Access Status Not yet assessed
Volume 36
Issue 1
Start page 118
End page 122
Total pages 5
Place of publication Hoboken, NJ, United States
Publisher John Wiley & Sons
Language eng
Abstract We report a 52-year-old woman who presented with a 6-month history of proximal muscle weakness, elevated serum creatine kinase, and myopathic pattern on electromyography (EMG). Histology of the muscle shows a speckled pattern due to clustering of enlarged mitochondria. The pathology resembles that of selenium deficiency. The patient was found to have borderline low serum selenium and also low vitamin D and thyroid-stimulating hormone. The cause of this unusual myopathy is probably multifactorial. This case is important because the unusual pathological picture represents a potentially treatable myopathy. In addition, we hope that publication of the complex clinical and biochemical abnormalities of this case, in conjunction with other case reports, may facilitate future elucidation of muscle mitochondrial function and dysfunction.
Keyword Mega-mitochondria
Mitochondrial disease
Vitamin D
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 8 times in Thomson Reuters Web of Science Article | Citations
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