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GENATLAS PHENOTYPE
last update : 27/07/2006
Symbol MERRF
Location mt
Name myoclonic epilepsy associated with ragged-red fibers
Other name(s) MERRF syndrome
Corresponding gene MT-TK , MT-TL1 , MT-TH , MT-TS1 , MT-TS2 , MT-TF , MT-ND5
Main clinical features encephalomyopathy
Genetic determination mitochondrial
Function/system disorder neurology
Type disease
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
missense     A8344G account for 80-90p100 of MERRF cases
missense     mitochondrial tRN-K (8344nt),tRN-S (7512nt),tRN-L (8363nt),tRN-D (7543nt)
Remark(s)