Associated Papers
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
Molecular heterogeneity in fetal forms of type II lissencephaly.
Bouchet C et al.
Human Mutation, 2007
Physical and functional association of human protein O-mannosyltransferases 1 and 2.
Akasaka-Manya K et al.
The Journal of Biological Chemistry, 2006
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 of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.
Akasaka-Manya K et al.
Biochemical and Biophysical Research Communications, 2004
LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.
Barresi R et al.
Nature Medicine, 2004
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.
Kim DS et al.
Neurology, 2004
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