Associated Papers
Novel prenatally diagnosed compound heterozygous POMT2 variants in fetal congenital primary aqueduct stenosis.
Tsauer JC et al.
Taiwanese Journal of Obstetrics & Gynecology, 2022
Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies.
Nickolls AR et al.
Disease Models & Mechanisms, 2020
32423971 (PubMed )
Supplement: dmm-13-042986-s1.pdf
Reporting one very rare pathogenic variation c.1106G>A in POMT2 gene.
Mahjoub G et al.
Intractable & Rare Diseases Research, 2020
Structure of the eukaryotic protein O-mannosyltransferase Pmt1-Pmt2 complex.
Bai L et al.
Nature Structural & Molecular Biology, 2019
31285605 (PubMed )
Supplement: NIHMS1530499-supplement-2.pdf
Muscular dystrophies due to defective glycosylation of dystroglycan.
Muntoni F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Godfrey C et al.
Brain : a Journal of Neurology, 2007
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