A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4

BackgroundIron–sulfur cluster assembly 2 (ISCA2) deficiency is linked to an autosomal recessive disorder known as multiple mitochondrial dysfunctions syndrome 4 (MMDS4). This disorder is characterized by leukodystrophy and neuroregression. Currently, most of the reported patients are from Saudi Arab...

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Principais autores:	Zuhair Al-Hassnan, Mazhor AlDosary, Aljouhra AlHargan, Hanan AlQudairy, Rawan Almass, Khaled Omar Alahmadi, Saif AlShahrani, Albandary AlBakheet, Mohammad A. Almuhaizea, Robert W. Taylor, Dilek Colak, Namik Kaya
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Frontiers Media S.A. 2024-10-01
סדרה:	Frontiers in Psychiatry
נושאים:	ISCA2 founder variant novel splicing variant mtDNA depletion leukodystrophy neuroregression
גישה מקוונת:	https://www.frontiersin.org/articles/10.3389/fpsyt.2024.1428175/full
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