Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family

BACKGROUND: The serine active site-containing protein 1 (SERAC1) biallelic variant usually causes MEGDEL syndrome, clinically characterized by increased excretion of 3-methylglutaconic in the urine, muscle hypotonia, sensorineural deafness, and Leigh-like lesions on brain MRI scans. In this study, w...

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Detalles Bibliográficos
Autores principales: Yan, Dandan, Chen, Shaopei, Cai, Fengying, Shu, Jianbo, Zhi, Xiufang, Zheng, Jie, Zhang, Chunhua, Li, Dong, Cai, Chunquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8873186/
https://www.ncbi.nlm.nih.gov/pubmed/35223715
http://dx.doi.org/10.3389/fped.2021.816265

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8873186/
https://www.ncbi.nlm.nih.gov/pubmed/35223715
http://dx.doi.org/10.3389/fped.2021.816265

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