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, Burcu, Uyanik, Gökhan, Dincer, Pervin, Gross, Claudia, Willer, Tobias, Talim, Beril, Haliloglu, Göknur, Kale, Gülsev, Hehr, Ute, Winkler, Jürgen and Topaloğlu, Haluk (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.Date of publication of this fulltext: 19 Dec 2024 15:03
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| Item type | Article | ||||
| Journal or Publication Title | Neuromuscular Disorders | ||||
| Publisher: | PERGAMON-ELSEVIER SCIENCE LTD | ||||
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| Place of Publication: | OXFORD | ||||
| Volume: | 15 | ||||
| Number of Issue or Book Chapter: | 4 | ||||
| Page Range: | pp. 271-275 | ||||
| Date | 2005 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Neurologie Biology, Preclinical Medicine > Institut für Pflanzenwissenschaften > Lehrstuhl für Zellbiologie und Pflanzenphysiologie (Prof. Dr. Klaus Grasser) | ||||
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| 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 | ||||
| Dewey Decimal Classification | 500 Science > 580 Botanical sciences 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 70830 |
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