MERRF syndrome

MERRF syndrome
[myoclonic epilepsy with ragged red fibers] a familial type of mitochondrial encephalopathy of maternal (mitochondrial) inheritance, characterized by myoclonic epilepsy and mitochondrial myopathy with ragged red fibers, and also by abnormal brainstem evoked responses, sensorineural hearing loss, ataxia, renal dysfunction, diabetes, cardiomyopathy, and dementia. It is usually caused by mutation within the mitochondrial gene encoding the tRNA specific for lysine. Called also Fukuhara s.

Medical dictionary. 2011.

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