MERRF syndrome

Also known as: Myoclonic epilepsy with ragged red fibers

Maternally inherited mitochondrial encephalomyopathy with myoclonus and epilepsy.

Medical specialty: Neurology
Subspecialty: Neurology / Mitochondrial disease; Epilepsy
Sex & age distribution: Male: affected; Female: affected equally (maternal transmission); Children: yes, onset in childhood to early adulthood
Gene(s) involved: MT-TF, MT-TH, MT-TK, MT-TL1, MT-TP

Etiology & mechanism

Mitochondrial tRNA-Lys variant impairs oxidative phosphorylation.

Gene(s) involved (5)

MT-TFMT-THMT-TKMT-TL1MT-TP

Symptoms & signs (8)

ataxiageneralized seizureshearing losslipomasmyoclonusmyopathy (ragged red fibers)neuropathyshort stature

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