TY  - GEN
AU  - Mollet,Julie
AU  - Delahodde,Agnès
AU  - Serre,Valérie
AU  - Chretien,Dominique
AU  - Schlemmer,Dimitri
AU  - Lombes,Anne
AU  - Boddaert,Nathalie
AU  - Desguerre,Isabelle
AU  - de Lonlay,Pascale
AU  - de Baulny,Hélène Ogier
AU  - Munnich,Arnold
AU  - Rötig,Agnès
TI  - CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
SN  - 1537-6605
PY  - 2008///0328
KW  - Adolescent
KW  - Adult
KW  - Amino Acid Sequence
KW  - Benzoquinones
KW  - analysis
KW  - Brain
KW  - enzymology
KW  - Cerebellar Ataxia
KW  - genetics
KW  - Female
KW  - Haplotypes
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Molecular Sequence Data
KW  - Muscle, Skeletal
KW  - chemistry
KW  - Mutation, Missense
KW  - Pedigree
KW  - Seizures
KW  - Ubiquinone
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2007.12.022
ER  -