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Titolo:
Complicated diabetes-deafness syndrome or association with a MELAS syndrome, in a patient harboring the mitochondrial DNA mutation at position 3243?
Autore:
Drouet, A; Guilloton, L; Godinot, C; Rochet, D; Ribot, C; Carrier, H;
Indirizzi:
HIA Desgenettes, Serv Neurol, F-69275 Lyon 03, France HIA Desgenettes Lyon France 03 tes, Serv Neurol, F-69275 Lyon 03, France Univ Lyon 1, CNRS, UMR 5534, F-69622 Villeurbanne, France Univ Lyon 1 Villeurbanne France F-69622 34, F-69622 Villeurbanne, France Univ Lyon 1, INSERM, U499, F-69622 Villeurbanne, France Univ Lyon 1 Villeurbanne France F-69622 99, F-69622 Villeurbanne, France
Titolo Testata:
REVUE NEUROLOGIQUE
fascicolo: 10, volume: 156, anno: 2000,
pagine: 892 - 895
SICI:
0035-3787(200010)156:10<892:CDSOAW>2.0.ZU;2-5
Fonte:
ISI
Lingua:
FRE
Soggetto:
LACTIC-ACIDOSIS; EPISODES MELAS; LARGE PEDIGREE; ENCEPHALOPATHY; MYOPATHY; MELLITUS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
12
Recensione:
Indirizzi per estratti:
Indirizzo: Drouet, A HIA Desgenettes, Serv Neurol, 108 Bd Pinel, F-69275 Lyon 03, France HIA Desgenettes 108 Bd Pinel Lyon France 03 275 Lyon 03, France
Citazione:
A. Drouet et al., "Complicated diabetes-deafness syndrome or association with a MELAS syndrome, in a patient harboring the mitochondrial DNA mutation at position 3243?", REV NEUROL, 156(10), 2000, pp. 892-895

Abstract

We report the case of fifty-two year-old mentally deficient female who presented with diabetes mellitus, deafness, stroke-like episodes, cardiomyopathy, and macular pattern dystrophy of the retina. Her brain exhibited calcification within basal ganglia, lactacidaemia was not increased. Although herskeletal muscles had never been clinically impaired, a quadriceps biopsy led to the diagnosis of mitochondrial disease because it exhibited ragged red fibers and heteroplasmic point-mutation at position 3243 of the mitochondrial DNA, although not any detectable respiratory chain complex deficiency was found The mutant percentage in muscle was 70p. 100 and 5 to 10p. 100 inleukocytes. The question of whether a diabetic microangiopathy may be responsible stroke-like episodes is discussed. We suggest it was rather a complicated form of diabetes-deafness than a incomplete MELAS syndrome associated with mitochondrial diabetes.

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Documento generato il 09/07/20 alle ore 17:10:27