Identification of a new

• Tác giả: María Alcázar-Fabra, Abigail K Bartlett, María Del Mar Blanquer-Roselló, Gloria Brea-Calvo, María Victoria Cascajo-Almenara, Ana Cortés-Rodríguez, María Andrea Desbats, Daniel J M Fernández-Ayala, Laura García-Corzo, Sabine W Gronborg, Valeria Morbidoni, Elsebet Østergaard, David J Pagliarini, Ana Sánchez-Cuesta, Lucía Sena, Laura Tomás-Gallado, Eva Trevisson
• Ngôn ngữ: eng
• Thông tin xuất bản: United States : Molecular genetics and metabolism reports , 2025
• Bộ sưu tập: NCBI
• ID: 689470

Tóm tắt

BACKGROUND AND AIMS: Primary Coenzyme Q (CoQ) deficiency caused by MATERIALS AND METHODS: Both fibroblasts from a proband with RESULTS: Here, we report the case of a subject harboring a new variant of the CONCLUSION: Our results highlight the importance of expanding the genetic analysis beyond the coding sequence to reduce the misdiagnosis of primary CoQ deficiency patients.