The Leber hereditary optic neuropathy 14484 mutation and X-linked adrenoleukodystrophy: A possible modifier of phenotypic expression?

Journal of Inherited Metabolic Disease

Volumn 22, Issue 6, 1999, Pages 760-761

  Gray, R G F ^a   Green, S H ^a   Davies, P ^a   Alger, S ^a   Green, A ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; ARTICLE; CASE REPORT; FATTY ACID BLOOD LEVEL; GENE MUTATION; HEREDITARY OPTIC ATROPHY; HUMAN; MALE; PHENOTYPE; SCHOOL CHILD; X CHROMOSOME;

ADRENOLEUKODYSTROPHY; CELLS, CULTURED; CHILD; DNA, MITOCHONDRIAL; FATTY ACIDS; FIBROBLASTS; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; OPTIC ATROPHIES, HEREDITARY; PHENOTYPE; POLYMERASE CHAIN REACTION; X CHROMOSOME;

EID: 0032772045     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005520922737     Document Type: Article

References (3)

1. Funalot B, Ranoux D, Mas J-L, Garcia C, Bonnefont J-P (1996) Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14484 mitochondrial mutation. J Neurol Neurosurg Psychiatry 61: 533-534.
2. Moser HW (1997) Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 120: 1485-1508.
3. Traboulsi EI and Maumenee IH (1987) Ophthalmological manifestations of X-linked childhood adrenoleukodystrophy. Ophthalmology 94: 47-52.