PMID- 10360771
OWN - NLM
STAT- MEDLINE
DCOM- 19990624
LR  - 20191024
IS  - 0364-5134 (Print)
IS  - 0364-5134 (Linking)
VI  - 45
IP  - 6
DP  - 1999 Jun
TI  - Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded
      subunit of complex I.
PG  - 787-90
AB  - 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.
FAU - Triepels, R H
AU  - Triepels RH
AD  - Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University
      Children's Hospital, The Netherlands.
FAU - van den Heuvel, L P
AU  - van den Heuvel LP
FAU - Loeffen, J L
AU  - Loeffen JL
FAU - Buskens, C A
AU  - Buskens CA
FAU - Smeets, R J
AU  - Smeets RJ
FAU - Rubio Gozalbo, M E
AU  - Rubio Gozalbo ME
FAU - Budde, S M
AU  - Budde SM
FAU - Mariman, E C
AU  - Mariman EC
FAU - Wijburg, F A
AU  - Wijburg FA
FAU - Barth, P G
AU  - Barth PG
FAU - Trijbels, J M
AU  - Trijbels JM
FAU - Smeitink, J A
AU  - Smeitink JA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Ann Neurol
JT  - Annals of neurology
JID - 7707449
RN  - EC 1.6.5.2 (NAD(P)H Dehydrogenase (Quinone))
SB  - IM
CIN - Ann Neurol. 1999 Jun;45(6):693-4. PMID: 10360760
MH  - Humans
MH  - Infant
MH  - Leigh Disease/*genetics
MH  - Male
MH  - Mutation/*genetics
MH  - NAD(P)H Dehydrogenase (Quinone)/*genetics
EDAT- 1999/06/09 00:00
MHDA- 1999/06/09 00:01
CRDT- 1999/06/09 00:00
PHST- 1999/06/09 00:00 [pubmed]
PHST- 1999/06/09 00:01 [medline]
PHST- 1999/06/09 00:00 [entrez]
AID - 10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co;2-6 [doi]
PST - ppublish
SO  - Ann Neurol. 1999 Jun;45(6):787-90. doi:
      10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co;2-6.