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GENATLAS PHENOTYPE

last update : 01- 02-2022

Symbol	AMS1
Location	15q26.1
Name	ataxia-myopathy syndrome 1
Other name(s)	mitochondrial recessive ataxia syndrome
Corresponding gene	POLG
Other symbol(s)	MIRAS
Main clinical features	cerebellar ataxia with juvenile-onset ptosis and gait disturbance, late onset of 5–41 years , variant, ranging from late-onset polyneuropathy to acute encephalopathy of adolescence neuronal complex I (CI)-defect ((Hakonen 2008)
Genetic determination	autosomal dominant
Function/system disorder	neurology
	neuromuscular
Type	disease

Gene product

Name	polymerase (DNA directed), gamma

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
unknown			W748S mutation

Remark(s)