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• W2890190513 abstract "Primary coenzyme Q10 deficiency-7 is caused by homozygous or compound heterozygous mutations in the COQ4 gene. Until now 12 patients have been reported, most presenting with a lethal infantile phenotype with encephalopathy, epilepsy and cardiomyopathy. We report on a new phenotype of COQ4 deficiency: a childhood onset spinocerebellar ataxia with stroke-like episodes." @default.
• W2890190513 created "2018-09-27" @default.
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• W2890190513 date "2018-12-01" @default.
• W2890190513 modified "2023-09-30" @default.
• W2890190513 title "Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes" @default.
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• W2890190513 doi "https://doi.org/10.1016/j.ymgmr.2018.09.002" @default.
• W2890190513 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6138878" @default.
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