Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency
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United States: Springer Nature B.V
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Language
English
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Publisher
United States: Springer Nature B.V
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Contents
Coenzyme Q(10) (CoQ) deficiency is an autosomal recessive disorder presenting five phenotypes: a myopathic form, a severe infantile neurological syndrome associated with nephritic syndrome, an ataxic variant, Leigh syndrome and a pure myopathic form. The third is the most common phenotype related with CoQ deficiency and it will be the focus of this...
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Full title
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency
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TN_cdi_proquest_miscellaneous_70508736
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70508736
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ISSN
1473-4222
E-ISSN
1473-4230
DOI
10.1080/14734220601021700
