Table 2e. [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 Hypertrophic cardiomyopathy Cataracts
DGUOK	Myopathy	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 (OMIM 610131)	AD	Multiple deletions	Infancy to adulthood	Ptosis Ophthalmoplegia
SLC25A4	Cardiomyopathy (OMIM 615418)	AR	Multiple deletions	Childhood	Exercise intolerance / easy fatigability Hypertrophic cardiomyopathy
Cardiomyopathy (OMIM 617184)	AD	Depletion	Birth	Hypotonia Hypertrophic cardiomyopathy
TK2	Mitochondrial DNA depletion syndrome	AR	Depletion	Infancy or childhood	Hypotonia Loss of acquired motor skills

From: Mitochondrial DNA Maintenance Defects Overview

GeneReviews^® [Internet].

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

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.