Yis, Uluc and Uyanik, Goekhan and Heck, Pinar Bambul and Smitka, Martin and Nobel, Hannes and Ebinger, Friedrich and Dirik, Eray and Feng, Lucy and Kurul, Semra H. and Brocke, Katja and Unalp, Aycan and Oezer, Erdener and Cakmakci, Handan and Sewry, Caroline and Cirak, Sebahattin and Muntoni, Francesco and Hehr, Ute and Morris-Rosendahl, Deborah J. (2011) Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype. NEUROMUSCULAR DISORDERS, 21 (1). pp. 20-30. ISSN 0960-8966, 1873-2364
Full text not available from this repository. (Request a copy)Abstract
Six genes including POMT1, POMT2, POMGNTI, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of alpha-dystroglycan (alpha-DG). Abnormal glycosylation of alpha-DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C and ID and some forms of autosomal recessive limb-girdle muscular dystrophy (LGMD2I, LGMD2K, LGMD2M), and is associated with mutations in the above genes. FCMD, caused by mutations in Fukutin (FKTN), is most frequent in Japan, but an increasing number of FKTN mutations are being reported outside of Japan. We describe four new patients with FKTN mutations and phenotypes ranging from: severe WWS in a Greek-Croatian patient, to congenital muscular dystrophy and cobblestone lissencephaly resembling MEB-FCMD in two Turkish patients, and limb-girdle muscular dystrophy and no mental retardation in a German patient. Four of the five different FKTN mutations have not been previously described. (C) 2010 Elsevier B.V. All rights reserved.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | FUKUYAMA-TYPE; ALPHA-DYSTROGLYCAN; RETROTRANSPOSAL INSERTION; GENE-MUTATIONS; DEFECTIVE GLYCOSYLATION; ABNORMAL GLYCOSYLATION; DILATED CARDIOMYOPATHY; HYPOGLYCOSYLATION; GENOTYPE; ORIGIN; Congenital muscular dystrophy; Fukutin mutation; Walker-Warburg syndrome; Fukuyama congenital muscular dystrophy; FCMD; FKTN |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 01 Jul 2020 08:33 |
| Last Modified: | 01 Jul 2020 08:33 |
| URI: | https://pred.uni-regensburg.de/id/eprint/21636 |
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