Primary and secondary CoQ10 deficiencies in humans
نویسندگان
چکیده
منابع مشابه
Primary and secondary CoQ(10) deficiencies in humans.
CoQ(10) deficiencies are clinically and genetically heterogeneous. This syndrome has been associated with five major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) nephrotic syndrome. In a few patients, pathogenic mutations have been identified in genes involved in the biosynthesis of CoQ(10) (prima...
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ژورنال
عنوان ژورنال: BioFactors
سال: 2011
ISSN: 0951-6433
DOI: 10.1002/biof.155