Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia

American Journal of Human Genetics

Volumn 58, Issue 4, 1996, Pages 703-711

  De Vries, D D ^b   Went, L N ^b   Bruyn, G W ^b   Scholte, H R ^b   Hofstra, R M W ^b   Bolhuis, P A ^b   Van Oost, B A ^a  

^a UTRECHT UNIVERSITY   (Netherlands)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; METHIONINE; MITOCHONDRIAL DNA; UBIQUINOL CYTOCHROME C REDUCTASE; VALINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; DYSTONIA; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HEREDITARY OPTIC ATROPHY; HUMAN; MALE; MUSCLE BIOPSY; NETHERLANDS; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; AMINO ACID SEQUENCE; CITRATE (SI)-SYNTHASE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; DYSTONIA; ELECTRON TRANSPORT; FEMALE; GENE FREQUENCY; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; NAD(P)H DEHYDROGENASE (QUINONE); NADH DEHYDROGENASE; OPTIC ATROPHIES, HEREDITARY; OXIDOREDUCTASES; PEDIGREE; PHENOTYPE; POINT MUTATION;

EID: 0029967483     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

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