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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	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
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Frontiers Media S.A. 2024-10-01
Цуврал:	Frontiers in Psychiatry
Нөхцлүүд:	ISCA2 founder variant novel splicing variant mtDNA depletion leukodystrophy neuroregression
Онлайн хандалт:	https://www.frontiersin.org/articles/10.3389/fpsyt.2024.1428175/full
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!