Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation

American Journal of Ophthalmology

Volumn 132, Issue 6, 2001, Pages 935-937

  Porto, Fernanda B O ^a   Mack, Geneviève ^a   Sterboul, Marie Josèphe ^a   Lewin, Patricia ^b   Flament, Jacques ^a   Sahel, José ^a   Dollfus, Hélène ^a  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b LABORATOIRE CERBA   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ADULT; ARTICLE; ATAXIA; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC COUNSELING; HUMAN; HUMAN TISSUE; LEIGH DISEASE; LEUKOCYTE; MALE; MITOCHONDRION; MOLECULAR BIOLOGY; MUSCLE WEAKNESS; NERVE DEGENERATION; OPHTHALMOSCOPY; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; RETINITIS PIGMENTOSA;

EID: 0035209570     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(01)01187-4     Document Type: Article

References (5)

1. Holt IJ, Harding AE, Petty RKH, et al. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-433.
2. Ortiz RG, Newman NJ, Shoffner JM, et al. Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation. Arch Ophthalmol 1993;111:1525-1530.
3. Chowers I, Lerman-Sagie T, Elpeleg ON, Shaag A, Merin S. Cone and rod dysfunction in the NARP syndrome. Br J Ophthalmol 1999;83:190-193.
4. Makela-Bengs P, Suomalainen A, Majander A, et al. Correlation between the clinical symptomatology and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome. Pediatr Res 1995;37:634-639.
5. White SL, Collins VR, Wolfe R, et al. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. Am J Hum Genet 1999;65:474-482.