Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene

Neuropediatrics

Volumn 38, Issue 6, 2007, Pages 313-316

  Childs, A M ^a   Hutchin, T ^b   Pysden, K ^a   Highet, L ^a   Bamford, J ^a   Livingston, J ^a   Crow, Y J ^b  

^a LEEDS GENERAL INFIRMARY   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

9185t>C; Leigh syndrome; Mitochondrial disease; MTATP6; NARP

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CONTROLLED STUDY; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; LEIGH DISEASE; MAJOR CLINICAL STUDY; MTATP6 GENE; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; LEIGH DISEASE; MALE; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MUTATION; PHENOTYPE;

EID: 44349099276     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1065355     Document Type: Article

References (10)

1. Castagna AE, Addis J, MacInnes RR et al. Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. Am J Med Genet 2007; 143A: 808-816
2. Davis PC, Hoffman JC, Braun IF et al. MR of Leigh's disease (subacute necrotising encephalomyelopathy). AJNR Am J Neuroradiol 1987; 8: 71-75
3. Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiat 1951; 14: 216-221
4. Lyons G, Adams RD, Kolodny EH. Early infantile progressive metabolic encephalopathies: clinical problems and diagnostic considerations. Neurology of hereditary metabolic diseases of children 2nd edn., New York: McGraw-Hill 1996
5. Makino M, Horai S, Goto Y, Nonaka I. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications. J Hum Genet 2000; 45: 69-75
6. Moslemi A-R, Darin N, Tulinius M, Oldfors A, Holme E. Two new mutations in the MTATP6 gene associated with Leigh syndrome. Neuropediatrics 2005; 36: 314-318
7. Ogilvie I, Capaldi R. Mutations of the mitochondrially encoded ATPase 6 gene modeled in the ATP synthase of Escherichia coli. FEBS Lett 1999; 453: 179-182
8. Rahman S, Blok RB, Dahl HH et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996; 39: 343-351
9. Santorelli FM, Mak SC, Vazquez-Memije E et al. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. Pediatr Res 1996; 39: 914-917
10. Tatuch Y, Christodolou J, Feigenbaum A et al. Heteroplasmic mtDNA mutation (TG) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992; 50: 852-858