Benutzer:Christian2003/MEB
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POMT1 (Protein O-mannosyl-transferase 1) [1][2]
- POMT2 (Protein O-mannosyl-transferase 2)[3][1][2][4]
- POMGNT1 (Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1)[5][6]
- Fukutin[1]
- FKRP (Fukutin related protein)[7]
- LARGE (Glycosyltransferase-like protein LARGE1)[6]
Einzelnachweise
[Bearbeiten | Quelltext bearbeiten]- ↑ a b c C. Godfrey, E. Clement u.a.: Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. In: Brain : a journal of neurology Band 130, Pt 10Oktober 2007, S. 2725–2735, ISSN 1460-2156. doi:10.1093/brain/awm212. PMID 17878207.
- ↑ a b E. Mercuri, S. Messina u.a.: Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. In: Neurology Band 72, Nummer 21, Mai 2009, S. 1802–1809, ISSN 1526-632X. doi:10.1212/01.wnl.0000346518.68110.60. PMID 19299310.
- ↑ E. Mercuri, A. D'Amico u.a.: POMT2 mutation in a patient with 'MEB-like' phenotype. In: Neuromuscular disorders : NMD Band 16, Nummer 7, Juli 2006, S. 446–448, ISSN 0960-8966. doi:10.1016/j.nmd.2006.03.016. PMID 16701995.
- ↑ A. Yanagisawa, C. Bouchet u.a.: POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. In: European journal of medical genetics Band 52, Nummer 4, 2009 Jul-Aug, S. 201–206, ISSN 1878-0849. doi:10.1016/j.ejmg.2008.12.004. PMID 19138766.
- ↑ V. S. Vervoort, K. R. Holden u.a.: POMGnT1 gene alterations in a family with neurological abnormalities. In: Annals of neurology Band 56, Nummer 1, Juli 2004, S. 143–148, ISSN 0364-5134. doi:10.1002/ana.20172. PMID 15236414.
- ↑ a b E. Clement, E. Mercuri u.a.: Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. In: Annals of neurology Band 64, Nummer 5, November 2008, S. 573–582, ISSN 1531-8249. doi:10.1002/ana.21482. PMID 19067344.
- ↑ D. Beltran-Valero de Bernabé, T. Voit u.a.: Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. In: Journal of medical genetics Band 41, Nummer 5, Mai 2004, S. e61, ISSN 1468-6244. PMID 15121789. PMC 173577 (freier Volltext).