Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.
Bénit, Paule
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. [electronic resource] - Human mutation Jun 2003 - 582-6 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.10225 doi
Age of Onset
Amino Acid Sequence
Base Sequence
Brain Diseases--genetics
Cardiomyopathy, Hypertrophic--genetics
Consanguinity
Electron Transport--genetics
Electron Transport Complex I
Fatal Outcome
Female
Homozygote
Humans
Infant
Infant, Newborn
Male
Molecular Sequence Data
Mutation--genetics
NADH, NADPH Oxidoreductases--chemistry
Protein Subunits--genetics
RNA Splice Sites--genetics
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. [electronic resource] - Human mutation Jun 2003 - 582-6 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.10225 doi
Age of Onset
Amino Acid Sequence
Base Sequence
Brain Diseases--genetics
Cardiomyopathy, Hypertrophic--genetics
Consanguinity
Electron Transport--genetics
Electron Transport Complex I
Fatal Outcome
Female
Homozygote
Humans
Infant
Infant, Newborn
Male
Molecular Sequence Data
Mutation--genetics
NADH, NADPH Oxidoreductases--chemistry
Protein Subunits--genetics
RNA Splice Sites--genetics