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
Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease.
Wang H et al.
Frontiers in Cardiovascular Medicine, 2021
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.
Hebbar M et al.
European Journal of Medical Genetics, 2017
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