A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel FBXL4 Variant

Mitochondrial DNA depletion syndromes (MDDS) are a group of rare genetic disorders caused by defects in multiple genes involved in mitochondrial DNA maintenance. Among these, FBXL4 gene variants result in encephalomyopathic mtDNA depletion syndrome 13 (MTDPS13), which commonly presents as a combinat...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Molecular syndromology 2021-08, Vol.12 (5), p.294-299
Hauptverfasser:	Oncul, Ummuhan, Kose, Engin, Eminoglu, Fatma Tuba
Format:	Artikel
Sprache:	eng
Schlagworte:	Novel Insights from Clinical Practice
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!