Novel compound heterozygous mutations in the AFG3L2 gene in a Chinese child with microcephaly, early-onset seizures, and cerebral atrophy

Novel compound heterozygous mutations in the AFG3L2 gene in a Chinese child with microcephaly, early-onset seizures, and cerebral atrophy

Background: The most common disease caused by biallelic AFG3L2 mutations is spastic ataxia type 5 (SPAX5). Identification of complex phenotypes resulting from biallelic AFG3L2 mutations has been increasing in recent years. Methods: A retrospective analysis was performed on a child with microcephaly...

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Bibliographic Details
Main Authors: Tingting Jin, Ying Kuang, Shulin Luo, Rongpin Wang, Kun Chen, Minmin Jiang, Lingyan Ren, Zhaolin Sun, Lifen Duan, Shengwen Huang
Format: Article
Language:English
Published: Elsevier 2023-04-01
Series:Heliyon
Subjects:
AFG3L2
Microcephaly
Early-onset seizures
Cerebral atrophy
Neurodegeneration
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844023019734

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