Article
Primary CoQ10 deficiency with a severe phenotype due to the c.901 C > T (p.R301W) mutation in the COQ8A gene.
The International journal of neuroscience - 1 Jun 2024
Değerliyurt Aydan, Gülleroğlu Nadide Başak, Kibar Gül Ayşe Esin
Abstract excerpt
PURPOSE: A patient with primary CoQ10 deficiency associated with the c.901 C > T (p.R301W) (rs140246430) homozygous missense pathogenic variant in the COQ8A gene, who presented with recurrent status epilepticus, stroke-like lesions, and hypertrophic cardiomyopathy while being followed-up with early-onset autosomal recessive cerebellar ataxia will be reported in this article. CASE REPORT: A 16-year-old patient who...
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