Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation

Human Genetics

Volumn 94, Issue 3, 1994, Pages 265-270

  Oostra, Roelof Jan ^a   Bolhuis, Pieter A ^b   Zorn Ende, Ina ^b   de Kok Nazaruk, Maryla M ^b   Bleeker Wagemakers, Elisabeth M ^a  

^a NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; HEREDITARY OPTIC ATROPHY; HUMAN; HUMAN CELL; PATHOGENICITY; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HUMAN; INCIDENCE; MALE; MUTATION; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 0027978132     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/BF00208281     Document Type: Article

References (29)

1. Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy
2. Mitochondrial DNA Complex I and III mutations associated with Leber's hereditary optic neuropathy
3. Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases
4. A maculopathy associated with the 15257 mitochondrial DNA mutation
5. Leber hereditary optic neuropathy: involvement of the mitochondrial ND 1 gene and evidence for an intragenic suppressor mutation
6. Leber hereditary optic neuropathy: identification of the same mitochondrial ND 1 mutation in six pedigrees
7. Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene
8. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
9. The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy
10. Clinical correlation of mitochondrial DNA heteroplasmy and Leber's hereditary optic neuropathy
11. Alternative, simultaneous Complex 1 mitochondrial DNA mutations in Leber's hereditary optic neuropathy
12. Cytochrome b mutations in Leber hereditary optic neuropathy
13. Cytochrome c oxidase mutations in Leber hereditary optic neuropathy
14. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
15. Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation
16. Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation
17. Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation
18. Reevaluation of the linkage of an optic atrophy susceptability gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)
19. Variable genotype of Leber's hereditary optic neuropathy patients
20. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology
21. The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees
22. Leber's hereditary optic neuropathy. New genetic considerations
23. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
24. Mitochondrial DNA analysis as a diagnostic tool in singleton cases of Leber's hereditary optic neuropathy
25. Leber's hereditary optic neuropathy. Correlations between mitochondrial genotype and visual outcome
26. Heteroplasmy in Leber's hereditary optic neuropathy
27. Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy
28. Mitochondrial DNA mutations associated with Leber's hereditary optic neuropathy
29. Diseases of mitochondrial DNA