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coenzyme Q10 deficiency (COQ10D)

Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations. It can be associated with three main clinical phenotypes: a predominantly myopathic form with central nervous system involvement, an infantile encephalomyopathy with renal dysfunction and an ataxic form with cerebellar atrophy.

ABREVIATION(S):
COQ10D

TYPE: neurodegenerative disease, mental retardation (MR)

DNAtraffic protein(s) related to disease: APTX

OMIM: 607426

Last modification date: July 28, 2011