Myo‐leukoencephalopathy in twins: Study of 3243‐myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation

F. Degoul, M. Diry, A. Pou‐Serradell, J. Lloreta, C. Marsac

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Abstract

Two dizygotic twins with myopathy and leukoencephalopathy are described. The female twin had an incomplete from of MELAS syndrome (myopathy, encephalopathy, lactic acidosis, and strokelike episodes) with severe myopathy, epileptic seizures without strokelike episodes. The male twin presented clinical features exclusively of myopathy and subclinical leukoencephalopathy. The MELAS mitochondrial DNA point mutation (MELAS‐3243) was found by southern blot and polymerase chain reaction in muscle, skin fibroblasts, and blood of the female twin and was not detected in the skin fibroblasts nor in the blood of the mother, nor in any of the tissues tested in the male twin. The absence of mutation in male twin tissues raises questions about the pathogenetic significance of the mutation in this family. Copyright © 1994 American Neurological Association
Original languageEnglish
Pages (from-to)365-370
JournalAnnals of Neurology
Volume35
Issue number3
DOIs
Publication statusPublished - 1 Jan 1994

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