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Myo-leukoencephalopathy in twins: study of 3243-myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation.

Authors
  • Degoul, F
  • Diry, M
  • Pou-Serradell, A
  • Lloreta, J
  • Marsac, C
Type
Published Article
Journal
Annals of neurology
Publication Date
Mar 01, 1994
Volume
35
Issue
3
Pages
365–370
Identifiers
PMID: 8122891
Source
Medline
License
Unknown

Abstract

Two dizygotic twins with myopathy and leukoencephalopathy are described. The female twin had an incomplete form 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.

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