Table 2h.

Mitochondrial DNA Maintenance Defects Presenting with Neuropathy

GeneDisorderMOImtDNA Maintenance DefectUsual Age of OnsetCommon Clinical Manifestations
MFN2 Charcot-Marie-Tooth neuropathy type 2a ADNAChildhood or early adulthoodPeripheral neuropathy

AD = autosomal dominant; MOI = mode of inheritance; mtDNA = mitochondrial DNA; NA= not available

From: Mitochondrial DNA Maintenance Defects Overview

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