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James E. Carroll, MD; Michael H. Brooke, MD; Aida Villadiego; Beverly J. Norris; Jill I. Trefz

Arch Neurol. 1986;43(2):128-131.

Abstract
• Two sisters with progressive myopathy demonstrated microscopic and biochemical evidence of lipid storage in skeletal muscle. Their muscle biopsy specimens resembled those seen in Duchenne's muscular dystrophy and some of the biochemical features were similar, including increased muscle concentration of long-chain acyl-coenzyme A (a fatty oxidation intermediate) and decreased oxidation of radioactively labeled fatty acids by muscle homogenates in vitro. Although the site of the defect was not localized, the data suggested impairment of intramitochondrial β-oxidation of fatty acids. These two patients may be important in understanding the pathogenesis of muscular dystrophy.

Author Affiliations
From the Departments of Neurology (Dr Carroll and Ms Trefz), Pediatrics (Dr Carroll), and Cell and Molecular Biology (Dr Carroll), Medical College of Georgia, Augusta; and the Department of Neurology and Neurosurgery (Neurology), Washington University School of Medicine, St Louis (Dr Brooke and Mss Villadiego and Norris).

Footnotes
Accepted for publication April 12, 1985.

Reprint requests to Director, Pediatric Neurology CK 297, Medical College of Georgia, Augusta, GA 30912 (Dr Carroll).

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