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Salvatore DiMauro, MD; Donald L. Schotland, MD; Eduardo Bonilla, MD; Chuan-Pu Lee, PhD; Pierluigi Gambetti, MD; Lewis P. Rowland, MD

Arch Neurol. 1973;29(3):170-179.

Abstract
Histochemical, ultrastructural, and biochemical studies were performed on two muscle biopsy specimens from a 40-yearold man with progressive ophthalmoplegia, facial and proximal limb weakness. In the first biopsy specimen there was increased glycogen and large numbers of mitochondria with paracrystalline inclusions. Glycogen content was 2.2% but glycolysis and glycogen enzyme values were normal. In the second biopsy specimen, mitochondrial alterations were less marked and glycogen content was normal. Mitochondria isolated from this biopsy sample showed lack of respiratory control with -glycerophosphate as a substrate. These data suggest a primary mitochondrial abnormality; the variability of glycogen content may be related to the degree of mitochondrial involvement.

Author Affiliations
Philadelphia

From the Spiller Neurological Unit, Division of Neuropathology, and the Johnson Research Foundation, University of Pennsylvania, Philadelphia.

Footnotes
Accepted for publication May 2, 1973.

Read in part before the 23rd annual meeting of the American Academy of Neurology, New York, April 29, 1971.

Reprint requests to Department of Neurology, 429 Johnson Pavilion, 36th St and Hamilton Walk, Philadelphia 19174 (Dr. DiMauro).

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