De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy

Neurology

Volumn 49, Issue 4, 1997, Pages 1136-1138

  Biousse, V ^a,b,c,d,e   Brown, ^a,b,c,d,e   Newman, N J ^a,b,c,d,e   Allen, J C ^a,b,c,d,e   Rosenfeld, J ^a,b,c,d,e   Meola, G ^a,b,c,d,e   Wallace, D C ^a,b,c,d,e  

^a Department of Ophthalmology ^*  (United States)

^b Center for Rehabilitation Medicine   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF MILAN   (Italy)

^e EMORY EYE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ARTICLE; CASE REPORT; DNA SEQUENCE; FAMILY; HAPLOTYPE; HEREDITARY OPTIC ATROPHY; HUMAN; MALE; MONOZYGOTIC TWINS; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; TWIN DISCORDANCE;

EID: 0030661935     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.49.4.1136     Document Type: Article

References (10)

1. Newman NJ. Leber's hereditary optic neuropathy: new genetic considerations. Arch Neurol 1993;50:540-548.
2. Howell N, Halvorson S, Burns J, McCullough DA, Poulton J. When does bilateral optic atrophy become Leber hereditary optic neuropathy? Am J Hum Genet 1993;53:959-963.
3. Brown MD, Torroni A, Reckord CL, Wallace DC. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. Hum Mutât 1995;6:311-325.
4. Torroni A, Huoponen K, Francalacci P, et al. Classification of European mtDNAs from an analysis of three European populations. Genetics 1996;144:1835-1850.
5. Brown MD, Sun F, Wallace DC. Clustering of Caucasian Leber's hereditary optic neuropathy patients containing the 11778 or 14484 mutations on a mitochondrial DNA lineage. Am J Hum Genet 1997;60:381-387.
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7. Johns DR, Smith KH, Miller NR, Sulewski ME, Bias WB. Identical twins who are discordant for Leber's hereditary optic neuropathy. Arch Ophthalmol 1993;111:1491-1494.
8. Nikoskelainen EK, Savontaus ML, Wanne OP, Katila MJ, Nummelin KU. Leber's hereditary optic neuropathy, a maternally inherited disease: a généalogie study in four pedigrees. Arch Ophthalmol 1987;105:665-671.
9. Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 1991;lll:750-762.
10. Oostra RJ, Bolhuis PA, Wijburg FA, Zorn-Ende G, BleekerWagemakers EM. Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. J Med Genet 1996;31:280-286.