A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review

• Hlavní autoři: Zhenkun Zhang (Autor), Xiaofan Bie (Autor), Zhehui Chen (Autor), Jing Liu (Autor), Zhenhua Xie (Autor), Xian Li (Autor), Mengjun Xiao (Autor), Qiang Zhang (Autor), Yaodong Zhang (Autor), Yanling Yang (Autor), Dongxiao Li (Autor)
• Médium: Kniha
• Vydáno: BMC, 2024-02-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

Abstract Background Mitochondrial diseases are heterogeneous in terms of clinical manifestations and genetic characteristics. The dynamin 1-like gene (DNM1L) encodes dynamin-related protein 1 (DRP1), a member of the GTPases dynamin superfamily responsible for mitochondrial and peroxisomal fission. D...