PMID- 10080174
OWN - NLM
STAT- MEDLINE
DCOM- 19990331
LR  - 20201209
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 21
IP  - 3
DP  - 1999 Mar
TI  - Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and
      myoclonic epilepsy.
PG  - 260-1
FAU - Schuelke, M
AU  - Schuelke M
FAU - Smeitink, J
AU  - Smeitink J
FAU - Mariman, E
AU  - Mariman E
FAU - Loeffen, J
AU  - Loeffen J
FAU - Plecko, B
AU  - Plecko B
FAU - Trijbels, F
AU  - Trijbels F
FAU - Stockler-Ipsiroglu, S
AU  - Stockler-Ipsiroglu S
FAU - van den Heuvel, L
AU  - van den Heuvel L
LA  - eng
SI  - GENBANK/AE000317
SI  - GENBANK/AF053070
SI  - GENBANK/M58607
SI  - GENBANK/X64402
SI  - GENBANK/X83999
SI  - GENBANK/Z50109
PT  - Case Reports
PT  - Letter
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (NDUFV1 protein, human)
RN  - 0 (Proteins)
RN  - EC 1.6.5.2 (NAD(P)H Dehydrogenase (Quinone))
RN  - EC 1.6.99.3 (NADH Dehydrogenase)
RN  - EC 7.1.1.2 (Electron Transport Complex I)
SB  - IM
MH  - Amino Acid Sequence
MH  - Brain/pathology
MH  - Brain Diseases/*genetics/pathology
MH  - Canavan Disease/genetics/pathology
MH  - Child, Preschool
MH  - Electron Transport Complex I
MH  - Epilepsies, Myoclonic/*genetics/pathology
MH  - Female
MH  - Homozygote
MH  - Humans
MH  - Infant
MH  - Male
MH  - Mitochondria/*genetics
MH  - Molecular Sequence Data
MH  - *Mutation, Missense
MH  - NAD(P)H Dehydrogenase (Quinone)/deficiency/genetics
MH  - NADH Dehydrogenase
MH  - Pedigree
MH  - Pregnancy
MH  - Proteins/*genetics/metabolism
MH  - Sequence Homology, Amino Acid
EDAT- 1999/03/18 03:02
MHDA- 2001/03/23 10:01
CRDT- 1999/03/18 03:02
PHST- 1999/03/18 03:02 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/03/18 03:02 [entrez]
AID - 10.1038/6772 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Mar;21(3):260-1. doi: 10.1038/6772.