CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
Mollet, Julie
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. [electronic resource] - American journal of human genetics Mar 2008 - 623-30 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2007.12.022 doi
Adolescent
Adult
Amino Acid Sequence
Benzoquinones--analysis
Brain--enzymology
Cerebellar Ataxia--genetics
Female
Haplotypes
Humans
Magnetic Resonance Imaging
Male
Molecular Sequence Data
Muscle, Skeletal--chemistry
Mutation, Missense
Pedigree
Seizures--genetics
Ubiquinone--analysis
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. [electronic resource] - American journal of human genetics Mar 2008 - 623-30 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2007.12.022 doi
Adolescent
Adult
Amino Acid Sequence
Benzoquinones--analysis
Brain--enzymology
Cerebellar Ataxia--genetics
Female
Haplotypes
Humans
Magnetic Resonance Imaging
Male
Molecular Sequence Data
Muscle, Skeletal--chemistry
Mutation, Missense
Pedigree
Seizures--genetics
Ubiquinone--analysis