Table 4.

Genes of Interest in the Differential Diagnosis of MERRF

Gene(s)DiffDx DisorderMOIClinical Features of DiffDx DisorderDistinguishing Features
CARS2 Combined oxidative phosphorylation deficiency 27 (OMIM 616672)ARJuvenile-onset MERRF-like severe myoclonus epilepsy w/ataxia, spastic tetraparesis, vision loss, hearing loss, & cognitive declineAR inheritance
MT-ND5
MT-TC 		MERRF/MELAS overlap syndromeMatMay initially resemble MERRF 1Stroke-like episodes
MT-TL2 MT-TL2 disorderMatFeatures of MERRF & NARP in 1 person 2Retinitis pigmentosa
POLG POLG-related disorders ARMyoclonus, epilepsy, ataxia, peripheral neuropathyAbsence of RRF in POLG phenotype

AR = autosomal recessive; DiffDx = differential diagnosis; Mat = maternal; MOI = mode of inheritance; NARP = neuropathy-ataxia-retinitis pigmentosa; RRF = ragged red fibers

1.
2.

From: MERRF

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