Associated Papers
Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.
von der Hagen M et al.
Neuropediatrics, 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
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Geis T et al.
Orphanet Journal of Rare Diseases, 2019
31311558 (PubMed )
Supplement: 13023_2019_1119_MOESM1_ESM.xlsx › POMT1_list_of_all_mutations
Functional Similarities between the Protein O-Mannosyltransferases Pmt4 from Bakers' Yeast and Human POMT1.
Bausewein D et al.
The Journal of Biological Chemistry, 2016
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
Bello L et al.
European Journal of Human Genetics : Ejhg, 2012
Abnormal glycosylation of dystroglycan in human genetic disease.
Hewitt JE
Biochimica Et Biophysica Acta, 2009
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.
Vajsar J et al.
Neuromuscular Disorders : Nmd, 2008
Physical and functional association of human protein O-mannosyltransferases 1 and 2.
Akasaka-Manya K et al.
The Journal of Biological Chemistry, 2006
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
van Reeuwijk J et al.
Human Mutation, 2006
Glyc-O-genetics of Walker-Warburg syndrome.
van Reeuwijk J et al.
Clinical Genetics, 2005
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
Balci B et al.
Neuromuscular Disorders : Nmd, 2005
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
Currier SC et al.
American Journal of Medical Genetics. Part A, 2005
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Beltrán-Valero de Bernabé D et al.
American Journal of Human Genetics, 2002
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