A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease

BACKGROUND AND PURPOSE: Pathogenic variants in B4GALNT1 have been reported to cause hereditary spastic paraplegia 26. This study has revealed that a novel compound heterozygous pathogenic variant in B4GALNT1 is associated with axonal Charcot-Marie-Tooth disease (CMT). METHODS: Whole-exome sequencing...

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Detalles Bibliográficos
Autores principales: Hong, Ji-Man, Jeon, Hyeonjin, Choi, Young-Chul, Cho, Hanna, Hong, Young Bin, Park, Hyung Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Neurological Association 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8490901/
https://www.ncbi.nlm.nih.gov/pubmed/34595861
http://dx.doi.org/10.3988/jcn.2021.17.4.534

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