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GENATLAS PHENOTYPE

last update : 12-05-2010

Symbol	COXPD6
Location	Xq26.1
Name	combined oxidative phosphorylation deficiency 6
Other name(s)	encephalomyopathy, mitochondrial, X-linked
Corresponding gene	AIFM1
Other symbol(s)	AIFM1D
Main clinical features	early-onset neurodegenerative disorder associated with dysfunction of the mitochondrial respiratory chain psychomotor delay, decreased spontaneous movement of the lower right limb and continuous involuntary movements of the hands and feet, fasciculations of the tongue, hypotonia, and areflexia brain MRI showed abnormal signals in the basal ganglia EMG and nerve conduction studies showed an axonal sensory and motor neuropathy muscle biopsy showed decreased mtDNA copy number (20p100 of control), and cultured fibroblasts showed reduced mitochondrial complexes I, II, III, and IV
Genetic determination	sex linked
Function/system disorder	mental retardation
	neurology
	multisystem/generalized
Type	disease

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