Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy [3]

Nature Genetics

Volumn 21, Issue 3, 1999, Pages 260-261

  Schuelke, M ^a   Smeitink, J ^a   Mariman, E ^a   Loeffen, J ^a   Plecko, B ^a   Trijbels, F ^a   Stockler Ipsiroglu, S ^a   Van den Heuvel, L ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

CASE REPORT; DNA SEQUENCE; ENZYME DEFICIENCY; FEMALE; GENETIC LINKAGE; HUMAN; LEIGH DISEASE; LETTER; LEUKODYSTROPHY; MISSENSE MUTATION; MITOCHONDRIAL RESPIRATION; MYOCLONUS EPILEPSY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; BRAIN; BRAIN DISEASES; CANAVAN DISEASE; CHILD, PRESCHOOL; EPILEPSIES, MYOCLONIC; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MALE; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NAD(P)H DEHYDROGENASE (QUINONE); NADH DEHYDROGENASE; PEDIGREE; PREGNANCY; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0032977683     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/6772     Document Type: Letter

References (17)