Homozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplantation, Expanding the Clinical Spectrum of MGME1 -Related Mitochondrial Disease.

doi:10.1002/ajmga.70049

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Article

Homozygous MGME1 Variant in Turkish Siblings: First Reported Case With Successful Heart Transplantation, Expanding the Clinical Spectrum of MGME1 -Related Mitochondrial Disease.

American journal of medical genetics. Part A - 1 May 2026

Acikgoz Nazli Busra, Demir Gizem Urel, Yildiz Yilmaz, Duz Mehmet Bugrahan, Sener Nagihan, Alpat Safak, Kesici Selman, Ertugrul Ilker, Yalnizoglu Dilek, Utine Gulen Eda, Kiper Pelin Ozlem Simsek

Abstract excerpt

We report two siblings harboring a homozygous MGME1 variant, NM_052865.4:c.818 T>A; p.(Val273Glu), both presenting with ptosis, myopathy, scoliosis, and gastrointestinal symptoms. The index patient developed progressive, medically refractory dilated cardiomyopathy and underwent successful orthotopic heart transplantation (OHT). Reanalysis of previously negative WES identified the variant in the index case, and...

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PMID: 41508548
DOI: 10.1002/ajmga.70049

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MGME1

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