Image2_A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4.jpeg

Image2_A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4.jpeg

Background<p>Iron–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 S...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: Zuhair Al-Hassnan (3443918) (author)
مؤلفون آخرون: Mazhor AlDosary (19867185) (author), Aljouhra AlHargan (19867188) (author), Hanan AlQudairy (14505782) (author), Rawan Almass (19867191) (author), Khaled Omar Alahmadi (19867194) (author), Saif AlShahrani (19867197) (author), Albandary AlBakheet (14505779) (author), Mohammad A. Almuhaizea (19867200) (author), Robert W. Taylor (9392601) (author), Dilek Colak (32197) (author), Namik Kaya (347797) (author)
منشور في: 2024
الموضوعات:
Psychiatry (incl. Psychotherapy)
ISCA2 founder variant
novel splicing variant
mtDNA
depletion
leukodystrophy
neuroregression
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