Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA

Neurology

Volumn 49, Issue 2, 1997, Pages 595-597

  Campos, Y ^a   Martin M A ^a   Rubio, J C ^a   Solana, L G ^b   Garcia Benayas C ^a   Terradas, J L ^b   Arenas, J ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MITOCHONDRIAL DNA;

ARTICLE; ATAXIA; CASE REPORT; CHILD; DISEASE ASSOCIATION; EXTRACHROMOSOMAL INHERITANCE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN TISSUE; LEIGH DISEASE; MALE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

EID: 0030820191     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.49.2.595     Document Type: Article

References (10)

1. DiMauro S, De Vivo DC. Genetic heterogeneity in Leigh syndrome. Ann Neurol 1996;40:5-7.
2. Holt IJ, Harding AE, Petty RKH, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-433.
3. Tatuch Y, Christodolou J, Feigenbaum A, et al. Heteroplasmic mtDNA mutation (T-to-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992;50:852-858.
4. Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's disease. Ann Neurol 1993;34:827-834.
5. de Vries DD, van Engelen BJ, Gabreels FJ, et al. A second missense mutation in the mitochondrial ATPase gene in Leigh's syndrome. Ann Neurol 1993;34:410-412.
6. Santorelli FM, Shanske S, Jain KD, et al. A T-to-C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology 1994;44:972-974.
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8. Thyaragajan D, Shanske S, Váquez-Memije M, De Vivo D, DiMauro S. A novel mitochondrial ATPase 6 point mutation in family bilateral striatal necrosis. Ann Neurol 1995;38:468-472.
9. DiMauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase in Leigh syndrome. Ann Neurol 1987;22:498-506.
10. DiMauro S, Moraes CT. Mitochondrial encephalomyopathies. Arch Neurol 1993;50:1197-1208.