A family with Leigh syndrome caused by the rarer T8993C mutation

Journal of Inherited Metabolic Disease

Volumn 21, Issue 6, 1998, Pages 685-686

  Chakrapani, A ^a   Heptinstall, L ^a   Walter, J ^a  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LACTIC ACID; MITOCHONDRIAL DNA;

ARTICLE; ATAXIA; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; GENE MUTATION; HUMAN; INFANT; LACTATE BLOOD LEVEL; LEIGH DISEASE; MALE; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD;

CYTOSINE; DNA, MITOCHONDRIAL; HUMANS; INFANT; LEIGH DISEASE; MALE; POINT MUTATION; PROTON-TRANSLOCATING ATPASES; THYMINE;

EID: 0031752223     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005401121344     Document Type: Article

References (3)

1. de Vries DD, van Engelen BG, Gabreels FJ, et al (1993) A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's Syndrome. Ann Neurol 34: 410-412.
2. Ferlin T, Landrieu P, Rambaud C, et al (1997) Segregation of the G8993 mutant mitochondrial DNA through generations of embryonic tissues in a family at risk of Leigh syndrome. J Paediatr 131: 447-449.
3. Santorelli FM, Mak S, Vasquez-Memije ME, et al (1996) Clinical heterogeneity associated with the mitochondrial DNA point mutation T8993C. Paediatr Res 39: 914-917.