Ataxia (Familial Cerebellar) with Muscle CoQ 10 Deficiency
作者： M. Hirano , C. Quinzii
DOI: 10.1016/B978-0-12-374105-9.00154-4
关键词: Mitochondrial DNA 、 Ataxia 、 Biochemistry 、 Mitochondrion 、 Internal medicine 、 Coenzyme Q – cytochrome c reductase 、 Atrophy 、 Mitochondrial respiratory chain 、 Endocrinology 、 Cerebellar ataxia 、 Medicine 、 Respiratory chain
摘要: Coenzyme Q 10 (CoQ or ubiquinone) is a lipid-soluble molecule with multiple cellular functions including transport of electrons in the mitochondrial respiratory chain. Deficiencies CoQ are generally autosomal recessive, often present cerebellar ataxia and atrophy, important to diagnose as they respond oral supplementation.
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