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GENATLAS PHENOTYPE |
last update : 26-02-2015 |
Symbol | COQ10D3 |
Location | 6q21 |
Name | coenzyme Q10 deficiency 3 |
Corresponding gene | PDSS2 |
Main clinical features | progressive muscle weakness, abnormal fatigability, and central nervous system dysfunction since early childhood, nephropathy, learning disability and epileptiform abnormalities on EEG, with a learning disability and epileptiform abnormalities on EEG, progressive cerebellar symptoms, and episodic myoglobinuria; measurement of skeletal muscle mitochondria coenzyme Q10 (CoQ10) severely reduced |
Genetic determination | autosomal recessive |
Function/system disorder | neurology |
neuromuscular | |
multisystem/generalized | |
Type | disease |
Remark(s) |