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
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
A case of mitochondrial DNA depletion syndrome type 11 - expanding the genotype and phenotype.
da Silva Rocha EB et al.
Neuromuscular Disorders : Nmd, 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
37103033 (PubMed )
Supplement: jcdd-10-00154-s001.zip › Table_S1.xlsx › GeneData
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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