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GENATLAS PHENOTYPE

last update : 30-04-2013

Symbol	AHMU
Location	1q44
Name	ataxia and muscle hypotonia
Corresponding gene	COX20
Main clinical features	ataxia and muscle hypotonia with complex IV deficiency cerebellar ataxia with intention tremor and pyramidal signs, delayed speech development mild elevation of blood and CSF lactate concentrations
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)

FAM36A defect hampers the early step of complex IV assembly at the incorporation of the COX2 subunit (PMID: 23125284))