Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.

• Tác giả: Anna Ardissone, Enrico Silvio Bertini, Boriana Büchner, Valerio Carelli, Sara Carli, Daria Diodato, Felix Distelmaier, Cristina Domínguez-González, Gian Nicola Gallus, Rebecca D Ganetzky, Caterina Garone, Thomas Klopstock, Chiara La Morgia, Costanza Lamperti, Anna Levarlet, Diego Lopergolo, Alessandro Malandrini, Michelangelo Mancuso, Miguel A Martín, Diego Martinelli, Valeria Nicoletta, Alessandro Prigione, Guido Primiano, Markus Schuelke, Pablo Serrano-Lorenzo, Leopold Zeng
• Ngôn ngữ: eng
• Ký hiệu phân loại: 950 History of Asia Orient Far East
• Thông tin xuất bản: United States : Neurology , 2025
• Bộ sưu tập: NCBI
• ID: 726322

Tóm tắt

 BACKGROUND AND OBJECTIVES: The mitochondrial DNA (mtDNA) genes METHODS: Clinical, biochemical, and molecular genetics data of patients with genetically confirmed RESULTS: A cohort of 111 patients, 98 unreported, were analyzed (55 male, 56 female). Patients had infantile-onset disease (<
 1 year) in 44% of cases, pediatric-onset (≥1 year and ≤12 years) in 36%, and late-onset (>
 12 years) in 20%. Kaplan-Meier analysis showed a significant difference ( DISCUSSION: Our results define a more accurate classification based on the age at onset for MT-ATPase deficiency and provide fundamental clinical and biochemical data for disease management.