Macular dystrophy, diabetes, and deafness associated with a large mitochondrial DNA deletion

American Journal of Ophthalmology

Volumn 125, Issue 1, 1998, Pages 100-103

  Souied, Eric H ^a   Salès, Marie Joelle ^b   Soubrane, Gisèle ^b   Coscas, Gabriel ^b   Bigorie, Basile ^b   Kaplan, Josseline ^b   Munnich, Arnold ^b   Rötig, Agnès ^b  

^a Clinique Ophtalmologique Universitaire   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ARTICLE; CASE REPORT; CATARACT; ELECTRORETINOGRAM; FEMALE; FLUORESCENCE ANGIOGRAPHY; GENE DELETION; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; INSULIN DEPENDENT DIABETES MELLITUS; OPHTHALMOSCOPY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; RETINA MACULOPATHY; SOUTHERN BLOTTING;

EID: 0031964692     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(99)80243-8     Document Type: Article

References (5)

1. 1. Johns DR. mtDNA mutations and ophthalmological disease. In: Wiggs JL, editor. Molecular genetics of ocular disease. New York: Wiley-Liss, 1995:201-218.
2. 2. Rummelt V, Folberg R, Ionasescu V. Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation. Ophthalmology 1993;100:1757-1766.
3. 3. van den Ouweland JMW, Lemkes HHPJ, Trembath RC, et al. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNALeu(UUR) gene. Diabetes 1994; 43:746-751.
4. 4. Ballinger SW, Shoffner JM, Heydaya EV, et al. Maternally transmitted diabetes mellitus and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nature Genet 1992; 1:11-15.
5. 5. Massin P, Guillausseau PJ, Vialettes B, et al. Macular pattern dystrophy associated with a mutation of mitochondrial DNA. Am J Ophthalmol 1995;120:247-248.