Cytochrome Oxidase Deficiency Project
The goal of this project is to find the mutation and the gene responsible
for the autosomal recessive disorder Saguenay-Lac-Saint-Jean (SLSJ)
cytochrome oxidase (COX) Deficiency.
It is a collaborative effort among Whitehead Institute/MIT Center
for Genome Research, University of
Toronto, Hospital for Sick Children
in Toronto and Chicoutimi Hospital.
OMIM Links
Other Links
References
- De Braekeleer M, Gauthier S Autosomal recessive disorders in
Saguenay-Lac-St-Jean, Quebec: study of kinship. Hum Biol
1996 Jun; 68(3): 371-81
- Di Mauro, S.; Lombes, A.; Nakase, H.; Mita, S.;Fabrizi, G.M.;
Tritshcler, H.-J.; Bonilla, E.; Miranda, A. F.; DeVivo,
D. C.; Schon, E. A.
Cytochrome c oxidase deficiency. Pediat. Res. 28: 536-541, 1990.
- Lee N, Morin C, Mitchell G, Robinson BH.
Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded
COX subunits, chromosomal localization and a sequence anomaly in
subunit VIc. Biochim Biophys Acta 1998 Feb 27;1406(1):1-4
- Merante F, Petrova-Benedict R, MacKay N, Mitchell G, Lambert M, Morin C, De Braekeleer M, Laframboise R,
Gagne R, Robinson BH.
A biochemically distinct form of cytochrome oxidase (COX) deficiency in the
Saguenay-Lac-Saint-Jean region of Quebec. Am J Hum Genet 1993 Aug;53(2):481-7
- Morin C, Mitchell G, Larochelle J, Lambert M, Ogier H, Robinson
BH, De Braekeleer M.
Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in
Saguenay-Lac-Saint-Jean. Am J Hum Genet 1993 Aug;53(2):488-96
- van Erven PM, Cillessen JP, Eekhoff EM, Gabreels FJ, Doesburg WH, Lemmens WA, Slooff JL, Renier WO,
Ruitenbeek W
Leigh syndrome, a mitochondrial encephalo(myo)pathy. A
review of the literature. Clin Neurol Neurosurg
1987;89(4):217-30