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GENATLAS PHENOTYPE

last update : 04-07-2012

Symbol	SNE1
Location	mt
Name	subacute necrotizing encephalopathy 1, Leigh syndrome
Corresponding gene	MT-ATP6
Other symbol(s)	LNE
Main clinical features	progressive disorder with onset during infancy or childhood (PMID: 21819970)) phenotypic variability characterized by lactate acidosis, bilaterally symmetrical necrotic lesions in the brainstem, basal ganglia, thalamus and spinal cord, occuring predominantly in infants
Genetic determination	mitochondrial
Related entries	. including adult onset ataxia and polyneuropathy, episodic ataxia and transient hemiplegia
Function/system disorder	metabolism/organic acid
Type	MCA/MR

Remark(s)

. ATPase 6 (8993nt), tR-V (1644nt, 8551nt, 9176nt, 14459nt) m.9176T→C mtDNA mutation associated with a unusual late-onset Leigh syndrome (PMID: 21819970))