In:
Journal of Inherited Metabolic Disease, Wiley, Vol. 29, No. 1 ( 2006-02), p. 212-213
Abstract:
Mutations in SURF1 , an assembly gene for cytochrome c oxidase (COX), the fourth complex of the oxidative phosphorylation system, are most frequently encountered in patients with COX deficiency. We describe a patient with Leigh syndrome harbouring a mutation in SURF1 who was reported decades ago with a tissue‐specific cytochrome c oxidase deficiency.
Type of Medium:
Online Resource
ISSN:
0141-8955
,
1573-2665
DOI:
10.1007/s10545-006-0185-3
Language:
English
Publisher:
Wiley
Publication Date:
2006
detail.hit.zdb_id:
2006875-X
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