Open AccessA Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease
Author(s) -
Ji Man Hong,
Hong Jun Jeon,
Young Chul Choi,
Hanna Cho,
Young Bin Hong,
Hyung Jun Park
Publication year - 2021
Publication title -
journal of clinical neurology/the journal of clinical neurology
Language(s) - English
Resource type - Journals
eISSN - 2005-5013
pISSN - 1738-6586
DOI - 10.3988/jcn.2021.17.4.534
Subject(s) - tooth disease , compound heterozygosity , disease , genetics , medicine , biology , pathology , mutation , gene
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).