Associated Papers
Homozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplantation, Expanding the Clinical Spectrum of MGME1-Related Mitochondrial Disease.
Acikgoz NB et al.
American Journal of Medical Genetics. Part A, 2026
A case of mitochondrial DNA depletion syndrome type 11 - expanding the genotype and phenotype.
da Silva Rocha EB et al.
Neuromuscular Disorders : Nmd, 2023
Linear mitochondrial DNA is rapidly degraded by components of the replication machinery.
Peeva V et al.
Nature Communications, 2018
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.
Hebbar M et al.
European Journal of Medical Genetics, 2017
Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases.
DeBalsi KL et al.
Ageing Research Reviews, 2017
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
Kornblum C et al.
Nature Genetics, 2013
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