TY  - GEN
AU  - Bénit,Paule
AU  - Beugnot,Réjane
AU  - Chretien,Dominique
AU  - Giurgea,Irina
AU  - De Lonlay-Debeney,Pascale
AU  - Issartel,Jean-Paul
AU  - Corral-Debrinski,Marisol
AU  - Kerscher,Stefan
AU  - Rustin,Pierre
AU  - Rötig,Agnès
AU  - Munnich,Arnold
TI  - Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy
SN  - 1098-1004
PY  - 2003///0903
KW  - Age of Onset
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Brain Diseases
KW  - genetics
KW  - Cardiomyopathy, Hypertrophic
KW  - Consanguinity
KW  - Electron Transport
KW  - Electron Transport Complex I
KW  - Fatal Outcome
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - NADH, NADPH Oxidoreductases
KW  - chemistry
KW  - Protein Subunits
KW  - RNA Splice Sites
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.10225
ER  -