Article
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2024
Armirola-Ricaurte Camila, Zonnekein Noortje, Koutsis Georgios, Amor-Barris Silvia, Pelayo-Negro Ana Lara, Atkinson Derek, Efthymiou Stephanie, Turchetti Valentina, Dinopoulos Argyris, Garcia Antonio, Karakaya Mert, Moris German, Polat Ayşe Ipek, Yiş Uluç, Espinos Carmen, Van de Vondel Liedewei, De Vriendt Els, Karadima Georgia, Wirth Brunhilde, Hanna Michael, Houlden Henry, Berciano Jose, Jordanova Albena
Abstract excerpt
PURPOSE: We describe 3 families with Charcot-Marie-Tooth neuropathy (CMT), harboring a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant previously linked to fatal Leigh syndrome. We aimed to characterize clinically and molecularly the newly identified patients and understand the mechanism underlying their milder phenotype. METHODS: The patients underwent extensive clinical examinations. Exome sequencing was done...
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