Balci, B. and Uyanik, Goekhan and Dincer, Pervin and Gross, Claudia and Willer, Tobias and Talim, B. and Haliloglu, G. and Kale, G. and Hehr, Ute and Winkler, Juergen and Topaloglu, H. (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. NEUROMUSCULAR DISORDERS, 15 (4). pp. 271-275. ISSN 0960-8966, 1873-2364
Full text not available from this repository. (Request a copy)Abstract
Mutations of the protein O-mannosyltransferase (POMT1) gene affect glycosylation of alpha-dystroglyean, leading to Walker-Warburg syndrome, a lethal disorder in early life with severe congenital muscular dystrophy, and brain and eye malformations. Recently, we described a novel form of recessive limb girdle muscular dystrophy with mild mental retardation, associated with an abnormal a-dystroglycan pattern in the muscle, suggesting a glycosylation defect. Here, we present evidence that this distinct phenotype results from a common mutation (A200P) in the POMT1 gene. Our findings further expand the phenotype of glycosylation disorders linked to POMT1 mutations. Furthermore, the A200P mutation is part of a conserved core haplotype, indicating an ancestral founder mutation. (c) 2005 Elsevier B.V. All rights reserved.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | EYE-BRAIN DISEASE; ALPHA-DYSTROGLYCAN; PROTEIN GENE; DEFECTIVE GLYCOSYLATION; FKRP GENE; DEFICIENCY; DISRUPTION; PHENOTYPE; FORM; POMT1 gene; LGMD2; WwS; hypoglycosylation of alpha-dystroglycan; A200P mutation |
| Subjects: | 500 Science > 580 Botanical sciences 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Neurologie Biology, Preclinical Medicine > Institut für Pflanzenwissenschaften > Lehrstuhl für Zellbiologie und Pflanzenphysiologie (Prof. Dr. Klaus Grasser) |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 18 May 2021 11:33 |
| Last Modified: | 18 May 2021 11:33 |
| URI: | https://pred.uni-regensburg.de/id/eprint/36327 |
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