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Article

POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Aug 2021

Gan Siyi, Yang Haiyan, Xiao Ting, Pan Zou, Wu Liwen

Abstract excerpt

Alpha-dystroglycanopathy (α-DGP) is a group of congenital muscular dystrophy and limb band muscular dystrophy caused by abnormal glycosylation of α-dystroglycan (α-DG). At present, there are few studies on the clinical manifestations, genetic characteristics, and diagnostic methods for α-DGP in China. Two cases of α-DGP caused by POMT1 and POMT2 gene mutations in the protein O-mannosyltransferases (PMTs) family...

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Identifiers

PMID: 34565739
DOI: 10.11817/j.issn.1672-7347.2021.200067
PMCID: PMC10929972

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