coenzyme Q10 deficiency

An autosomal recessive disorder (OMIM:607426) with three main clinical phenotypes:
(1) Ataxic form with cerebellar atrophy;
(2) Infantile encephalomyopathic form with renal dysfunction; and
(3) Predominantly myopathic form with CNS involvement.

Molecular pathology
Defects of APTX on chromosome 9p13.3, which encodes aprataxin (a DNA-binding protein involved in single- and double-stranded DNA break repair and base excision repair), cause coenzyme Q10 deficiency.

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