Table 1. [Categories of mtDNA Maintenance Defects: Genes and Primary Presenting Features]. - GeneReviews®

From: Mitochondrial DNA Maintenance Defects Overview

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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Category of Defect	Gene	Primary Presenting Features
Category of Defect	Gene	Encephalo- hepatopathy	Encephalo- myopathy	Encephalo- neuropathy	Neurogastro- intestinal Encephalopathy	Myopathy	Ophthal- moplegia	Optic Atrophy	Neuropathy
Mitochondrial DNA synthesis	POLG	X	X	X	X	X	X
	POLG2					X
	TWNK	X		X			X
	TFAM	X
	RNASEH1		X
	MGME1					X
	DNA2					X
Mitochondrial nucleotide salvage pathway	TK2					X	X
	DGUOK	X				X
	SUCLA2		X
	SUCLG1		X
	ABAT		X
Cytosolic nucleotide metabolism	TYMP				X
Cytosolic nucleotide metabolism	RRM2B		X		X		X
Mitochondrial nucleotide import	SLC25A4					X	X
	AGK					X
	MPV17	X
Mitochondrial fusion	OPA1		X	X				X
	MFN2							X	X
	FBXL4		X