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Article

Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.

Journal of human genetics - 1 Aug 2016

Yang Haipo, Manya Hiroshi, Kobayashi Kazuhiro, Jiao Hui, Fu Xiaona, Xiao Jiangxi, Li Xiaoqing, Wang Jingmin, Jiang Yuwu, Toda Tatsushi, Endo Tamao, Wu Xiru, Xiong Hui

Abstract excerpt

Protein O-mannosyltransferase 1 (POMT1) is a glycosyltransferase involved in α-dystroglycan glycosylation. POMT1 mutations cause a wide spectrum of clinical conditions from Walker-Warburg syndrome (WWS), which involves muscle, eye and brain abnormalities, to mild forms of limb-girdle muscular dystrophy with mental retardation. We aimed to elucidate the impact of different POMT1 mutations on the clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27193224
DOI: 10.1038/jhg.2016.42

Genes

POMT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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