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Neuromuscular Components

Mario Kornfeld, MD; Russell D. Snyder, MD; Joseph MacGee, PhD; Otto Appenzeller, MD, PhD

Arch Neurol. 1975;32(2):103-107.

Abstract
Clinical, light microscopical, ultrastructural, and biochemical studies were done on nerve and muscle biopsy specimens from five patients with the oculo-cerebral-renal syndrome of Lowe. Four patients were American Indians, a racial group in whom this disease has not previously been recognized. The hypotonia, areflexia, and diffuse atrophy of muscles are associated with slowed motor nerve conduction velocities, and the morphologic changes in sensory nerves are attributed to a "dying-back" phenomenon probably resulting from an unknown metabolic derangement.

Author Affiliations
From the departments of neurology (Drs. Appenzeller and Snyder) and pathology (Dr. Kornfeld), University of New Mexico School of Medicine, Albuquerque, and the Medical Research Laboratories, Veterans Administration Hospital and the departments of experimental medicine and biologic chemistry, University of Cincinnati College of Medicine, Cincinnati (Dr. MacGee).

Footnotes
Accepted for publication May 9, 1974.

Reprint requests to Department of Neurology, University of New Mexico School of Medicine, 1007 Stanford Dr NE, Albuquerque, NM 87131 (Dr. Appenzeller).

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