Table 4b. [Mitochondrial DNA Maintenance Defects Presenting with Myopathy]. - GeneReviews®

Gene	Disorder	MOI	mtDNA Maintenance Defect	Usual Age of Onset	Common Clinical Manifestations in Addition to Muscle Weakness
AGK	Sengers syndrome (OMIM 212350)	AR	Depletion	Neonatal period	Hypotonia HCM Cataracts
DGUOK	Deoxyguanosine kinase deficiency	AR	Multiple deletions	Early or mid-adulthood	Ptosis Ophthalmoplegia
DNA2	Myopathy (OMIM 615156)	AD	Multiple deletions	Childhood or early adulthood	Ptosis Ophthalmoplegia
MGME1	Myopathy (OMIM 615084)	AR	Depletion & multiple deletions	Childhood or early adulthood	Ptosis Ophthalmoplegia
POLG2	Myopathy (See POLG-Related Disorders.)	AD	Multiple deletions	Infancy to adulthood	Ptosis Ophthalmoplegia
SLC25A4	Cardiomyopathy (OMIM 615418)	AR	Multiple deletions	Childhood	Exercise intolerance / easy fatigability HCM
Cardiomyopathy (OMIM 617184)	AD	Depletion	Birth	Hypotonia HCM
TK2	Mitochondrial DNA depletion syndromes	AR	Depletion	Infancy or childhood	Hypotonia Loss of acquired motor skills

From: MPV17-Related Mitochondrial DNA Maintenance Defect

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

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