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

William R. Markesbery, Michael P. Mcquillen, Peter G. Procopis, Alvin R. Harrison, Andrew G. Engel

Research output: Contribution to journalArticlepeer-review

74 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)320-324
Number of pages5
JournalArchives of neurology
Volume31
Issue number5
DOIs
StatePublished - Nov 1974

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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