Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
Leigh syndrome is the phenotypical expression of a genetically heterogeneous cluster of disorders, with pyruvate dehydrogenase complex deficiency and respiratory chain disorders as the main biochemical causes. We report the first missense mutation within the nuclear encoded complex I subunit, NDUFS7, in 2 siblings with neuropathologically proven complex I-deficient Leigh syndrome.
Triepels
R H
RH
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, The Netherlands.
van den Heuvel
L P
LP
Loeffen
J L
JL
Buskens
C A
CA
Smeets
R J
RJ
Rubio Gozalbo
M E
ME
Budde
S M
SM
Mariman
E C
EC
Wijburg
F A
FA
Barth
P G
PG
Trijbels
J M
JM
Smeitink
J A
JA
D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000235:genetics*
D016660:NAD(P)H Dehydrogenase (Quinone)