Article
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.
American journal of medical genetics. Part A - 1 Feb 2025
Hassaan Hebatallah M, Pyle Angela, Almenabawy Nihal, Robertson Fiona M, Elkhateeb Nour, Girgis Marian Y, Mahmoud Iman Gamal El Din, Amer Fawzia, Samaha Mona, Shaheen Yara, ElNaggar Walaa, Abdoh Doaa, Mehaney Dina Ahmed, Meguid Iman Ehsan Abdel, Taylor Robert W, McFarland Robert, Selim Laila
Abstract excerpt
Mitochondrial disorders exhibit clinical and genetic diversity. Nearly 400 distinct genes, located in both the mitochondrial and nuclear genomes, harbor pathogenic variants that can produce a broad spectrum of mitochondrial diseases. This work aims to explore the genetic etiology of a cohort of Egyptian pediatric patients who were clinically suspected of having a mitochondrial disorder. A total of 49 patients...
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