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GENATLAS PHENOTYPE

last update : 22/08/2006

Symbol	NDUFS7
Location	19p13
Name	subacute necrotizing encephalopathy, Leigh syndrome
Corresponding gene	NDUFS7
related resource	MITOP database
Main clinical features	characterized by feeding problems, dysarthria, ataxia, leukodystrophy, myoclonic epilepsy and cardiomyopathy bilaterally symetrical necrotic lesions in the brain stem, basal ganglia, thalamus and spinal cord, a progressive course
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)

mutation in the first intron of the NDUFS7 gene (c.17-1167 C>G) and creating a strong donor splice siteresulting in the generation of a cryptic exon, and impaired assembly of mitochondrial complex I