Leber's hereditary optic neuropathy in Indonesia: Two families with the mtDNA 11778G>A and 14484T>C mutations

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Sudoyo, Herawati ^a,c   Sitepu, Mulia ^b   Malik, Safarina ^a   Poesponegoro, Hardiono D ^c   Marzuki, Sangkot ^a  

^a EIJKMAN INSTITUTE FOR MOLECULAR BIOLOGY   (Indonesia)

^b ATMA JAYA CATHOLIC UNIVERSITY OF INDONESIA   (Indonesia)

^c UNIVERSITY OF INDONESIA   (Indonesia)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; GUANINE; MITOCHONDRIAL DNA; THYMINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

ARTICLE; FEMALE; GENE MUTATION; HEREDITARY OPTIC ATROPHY; HUMAN; INDONESIA; MAJOR CLINICAL STUDY; MALE; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; AMINO ACID SUBSTITUTION; CHEMISTRY; FAMILY HEALTH; GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FAMILY HEALTH; FEMALE; HUMANS; INDONESIA; MALE; NADH DEHYDROGENASE; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; POINT MUTATION;

EID: 0031964862     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110186     Document Type: Article

References (10)

1. Brown MD, Voljavec AS, Lott MT, MacDonald I, Wallace DC (1992) Leber's hereditary optic neuropathy: A model for mitochondrial neurodegenerative diseases. FASEB J 6:2791-2799.
2. Carrol WM, Mastaglia FL (1979) Leber's optic neuropathy. A clinical and visual evoked potential study of affected and asymptomatic members of a six-generation family. Brain 102:559-580.
3. Howell N, Kubacka I, Xu M, McCullough DA (1991) Leber hereditary optic neuropathy: Involvement of the mitochondrial ND I gene and evidence for an intragenic suppressor mutation. Am J Hum Genet 48:935-942.
4. Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML (1991) A new mtDNA mutation associated with Leber hereditary optic neuropathy. Am J Hum Genet 48:1147-1153.
5. Johns DR, Berman J (1991) Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 174:1324-1330.
6. Johns DR, Neufeld MJ (1991) Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun 181:1358-1364.
7. Johns DR, Neufeld MJ, Park RD (1992) An ND6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 187:1551-1557.
8. Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, DaCosta J, Harding AE (1995) The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118:319-337.
9. Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GGT, Erlich HA, AmheimN (1985) Enzymatic amplification of a B-globin genomic sequences and restriction site analysis of a sickle cell anemia. Science 230:1350-1354.
10. Sudoyo H, Marzuki S, Mastaglia F, Caroll W (1992) Molecular genetics of Leber's hereditary optic neuropathy: Study of a six-generation family from Western Australia. J Neurol Sci 108:7-17.