Complicated diabetes-deafness syndrome or association with a MELAS syndrome, in a patient harboring the mitochondrial DNA mutation at position 3243?;Diabete mitochondrial complique ou associe a un syndrome 'MELAS'?

Revue Neurologique

Volumn 156, Issue 10, 2000, Pages 780-783

  Drouet, A ^a   Guilloton, L ^a   Godinot, C ^b   Rochet, D ^b   Ribot, C ^a   Carrier, H ^c  

^a HIA Desgenettes   (France)

^b CENTRE DE GÉNÉTIQUE MOLÉCULAIRE ET CELLULAIRE   (France)

^c UNIVERSITÉ LYON 1   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; BASAL GANGLION; BRAIN CALCIFICATION; CASE REPORT; CLINICAL EXAMINATION; DIABETES MELLITUS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; MELAS SYNDROME; MUSCLE BIOPSY; SYNDROME DELINEATION; BRAIN; BRAIN DISEASE; CALCINOSIS; CARDIOMYOPATHY; GENETICS; MIDDLE AGED; MUSCLE MITOCHONDRION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; POINT MUTATION; RETINA MACULA DEGENERATION; TRANSIENT ISCHEMIC ATTACK;

BRAIN; BRAIN DISEASES; CALCINOSIS; CARDIOMYOPATHIES; DEAFNESS; DIABETES COMPLICATIONS; DIABETES MELLITUS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; ISCHEMIC ATTACK, TRANSIENT; MACULAR DEGENERATION; MAGNETIC RESONANCE IMAGING; MELAS SYNDROME; MIDDLE AGED; MITOCHONDRIA, MUSCLE; POINT MUTATION;

EID: 0034294562     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Macular pattern dystrophy in patients deafness and diabetes
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3. Clinical spectrum of the MELAS mutation in a large pedigree
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5. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A correlative study of the clinical features and mitochondrial DNA mutation
6. Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): Clinical, radiological, pathological and genetic observations
7. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
8. Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: Comparaison with the phenotype and the proportion of mutant genome
9. Diabetes with the 3243 mitochondrial tRNA Leu (UUR) mutation. Charateristic neuroimaging findings
10. Muscle histopathology in diabetes mellitus associated with mitochondrial tRNA leu (UUR) mutation at position 3243
11. Mutation in mitochondrial t RNA leu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
12. Maternally inherited diabetes and deafness associated with a mitochondrial t RNA leu (UUR) gene point mutation