Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia

Background: Hereditary spastic paraplegia (HSP) caused by mutations in ALDH18A1 have been reported as spastic paraplegia 9 (SPG9), with autosomal dominant and autosomal recessive transmission (SPG9A and SPG9B). SPG9 is rare and has shown phenotypic and genotypic heterogeneity in previous reports. Me...

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Veröffentlicht in:Front Neurol
Hauptverfasser: Chen, Yi-Jun, Zhang, Zai-Qiang, Wang, Meng-Wen, Qiu, Yu-Sen, Yuan, Ru-Ying, Dong, En-Lin, Zhao, Zhe, Zhou, Hai-Tao, Wang, Ning, Chen, Wan-Jin, Lin, Xiang
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2021
Schlagworte:
Neurology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8170465/
https://ncbi.nlm.nih.gov/pubmed/34093392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2021.627531
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