Biallelic

• Tác giả: Mohamed S Abdel-Hamid, Ahmad Alahmad, Ahmad Alaqeel, Shahryar Alavi, Buthaina Albash, Javeria Raza Alvi, Meisam Babaei, Amaya Belanger-Quintana, Deanna Alexis Carere, Majida Charif, Stephanie Efthymiou, Rasha M Elhossini, Ehsan Ghayoor Karimiani, Vykuntaraju K Gowda, Narges Hashemi, Morteza Heidari, Henry Houlden, Jessica Jakobczyk, Rauan Kaiyrzhanov, Seyed Mehdi Kalantar, Guy Lenaers, Reza Maroofian, Robert McFarland, Seyed Hamidreza Mirabutalebi, Mojtaba Movahedinia, Askhat Mukushev, David Murphy, Melanie Napier, Dmitriy Niyazov, Asuri N Prasad, Chitra Prasad, Agathe Roubertie, Tony Rupar, Leonid Sazanov, Mariasavina Severino, Varunvenkat M Srinivasan, Tipu Sultan, Homa Tajsharghi, Robert W Taylor, Kyle Thompson, Mehran Beiraghi Toosi, Mohammad Yahya Vahidi Mehrjardi, Akbota Zharylkassyn
• Ngôn ngữ: eng
• Ký hiệu phân loại: 232.964 Burial
• Thông tin xuất bản: England : Brain communications , 2025
• Bộ sưu tập: NCBI
• ID: 197289

Tóm tắt

Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three affected individuals from two families. With only two families reported, the clinical and molecular spectrum of NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13