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November 1974

Muscle Carnitine Deficiency: Association With Lipid Myopathy, Vacuolar Neuropathy, and Vacuolated Leukocytes

Author Affiliations

From the departments of neurology (Drs. Markesbery, McQuillen, and Procopis) and pathology (Dr. Markesbery), University of Kentucky Medical Center, Lexington, and the Department of Neurology and Neuromuscular Research Laboratory (Dr. Engel), Mayo Clinic and Mayo Foundation, Rochester, Minn. Dr. Procopis was an Overseas Fellow of the Postgraduate Committee in Medicine, University of Sydney, Sydney, Australia. Dr. McQuillen is now with the Department of Neurology, Medical College of Wisconsin, Milwaukee.

Arch Neurol. 1974;31(5):320-324. doi:10.1001/archneur.1974.00490410068007

A 61-year-old woman had proximal muscle weakness since 38 years of age. Eventually, her distal muscles became affected and she showed widespread muscle wasting, absent tendon reflexes, and electromyographic findings of a neuropathy. On biopsy, there was a lipid storage myopathy, lipid-containing vacuoles in leukocytes, and vacuoles in Schwann cells. The muscle carnitine level was abnormally low, but the serum carnitine level was normal. The findings are consistent with a generalized disorder of carnitine metabolism that may involve carnitine transport across cell membranes.

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