Phenotypic differences between T ≤ C and T ≤ G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome

Pediatric Neurology

Volumn 18, Issue 3, 1998, Pages 275-277

  Fujii, Tatsuya ^a   Hattori, Haruo ^b   Higuchi, Yoshihisa ^b   Tsuji, Masahiro ^b   Mitsuyoshi, Izuru ^c  

^a UNIVERSITY OF FUKUI   (Japan)

^b KYOTO UNIVERSITY FACULTY OF MEDICINE   (Japan)

^c UTANO NATIONAL HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; ATAXIA; CASE REPORT; DISEASE SEVERITY; FEMALE; GENE MUTATION; HUMAN; LEIGH DISEASE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

CHILD, PRESCHOOL; CYTIDINE; DNA, MITOCHONDRIAL; FEMALE; GUANINE; HUMANS; LEIGH DISEASE; PHENOTYPE; POINT MUTATION; THYMIDINE;

EID: 0031915011     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(97)00187-2     Document Type: Article

References (11)

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2. Willems JL, Monnens LAH, Trijbels JMF, et al. Leigh encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue. Pediatrics. 60:1977;850-857.
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8. 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 syndrome. Ann Neurol. 34:1993;827-834.
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10. Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S. A T → C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology. 44:1994;972-974.
11. Santorelli FM, Mak SC, Vazquez Memije E, et al. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. Pediatr Res. 39:1996;914-917.