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Article

Pathogenic mechanisms and clinical insights into B3GALNT2-related alpha-dystroglycanopathies.

Journal of neuromuscular diseases - 1 Nov 2025

Fu Xiaona, Wang Hui, Chai Wenjia, Chen Xiaoyu, Song Danyu, Wang Wei, Zhong Jingwei, Liu Zhimei, Tong Xiao, Xiong Hui, Ren Xiaotun, Gui Jingang

Abstract excerpt

BackgroundB3GALNT2 mutations cause α-dystroglycanopathy (α-DGP), a rare condition characterized by muscular dystrophy, brain malformations, and developmental delay. However, its pathogenic mechanisms remain poorly understood. To date, limited cases have been reported, and the pathogenic mechanisms remain incompletely understood.MethodsClinical and genetic data from 3 newly diagnosed Chinese patients and 28...

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Share to Dystroglycans
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 40665687
DOI: 10.1177/22143602251360270
PMCID: PMC13142883

Genes

B3GALNT2
CHST10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Pathogenic mechanisms and clinical insights into B3GALNT2-related alpha-dystroglycanopathies.PMID 40665687Read ↗

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