Leber's Hereditary Optic Neuropathy: Clinical Manifestations of the 14484 Mutation

Archives of Ophthalmology

Volumn 111, Issue 4, 1993, Pages 495-498

  Johns, Donald R ^a   Heher, Katrinka L ^b   Miller, Neil R ^a,b   Smith, Kyle H ^c,d  

^a Department of Neurology ^*  (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d SCOTT AND WHITE MEMORIAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEMOGRAPHY; DNA DETERMINATION; FEMALE; GENETIC SCREENING; HEREDITARY OPTIC ATROPHY; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; OPTIC NERVE DISEASE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROBABILITY; PROGNOSIS; SCHOOL CHILD; VISUAL ACUITY; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; COMPARATIVE STUDY; DNA, MITOCHONDRIAL; FEMALE; FOLLOW-UP STUDIES; HUMAN; MALE; MIDDLE AGE; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; POLYMERASE CHAIN REACTION; PROGNOSIS; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; VISUAL ACUITY;

EID: 0027502505     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archopht.1993.01090040087038     Document Type: Article

References (13)

1. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988;242:1427–1430.
2. Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML. A new mtDNA mutation associated with Leber's hereditary optic neuropathy. Am J Hum Genet. 1991;48:1147–1153.
3. Howell N, Bindoff LA, McCullough DA, et al. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet. 1991;49:939–950.
4. Johns DR, Neufeld MJ. Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun. 1991;181:1358–1364.
5. Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics. 1992;130:163–173.
6. Johns DR, Neufeld MJ, Park RD. An ND-6 mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun. 1992;187:1551–1557.
7. Howell N, Kubacka I, Xu M, McCullough DA. Leber hereditary optic neuropathy: involvement of the ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet. 1991;48:935–942.
8. Johns DR, Berman J. Alternative simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun. 1991;174:1324–1330.
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;111:750–762.
10. Johns DR, Smith KH, Miller NR. Leber's hereditary optic neuropathy: clinical manifestations of the 3460 mutation. Arch Ophthalmol. 1992;110:1577–1581.
11. Johns DR, Smith KH, Savino PJ, Miller NR. Leber's hereditary optic neuropathy: clinical manifestations of the 15257 mutation. Ophthalmology. In press.
12. Morse RM, Flavin DK. The definition of alcoholism. JAMA. 1992;268:1012–1014.
13. Stone EM, Newman NJ, Miller NR, Johns DR, Lott MT, Wallace DC. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J Clin Neuro Ophthalmol. 1992;12:10–14.