Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy-Reference-Cited by-同舟云学术

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Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy

Published:2013-09-20 Issue:3-4 Volume:14 Page:205-213
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Geis Tobias,Marquard Klaus,Rödl Tanja,Reihle Christof,Schirmer Sophie,von Kalle Thekla,Bornemann Antje,Hehr Ute,Blankenburg Markus

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-013-0374-9.pdf

Reference27 articles.

1. Barresi R, Campbell KP (2006) Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci 119(Pt 2):199–207

2. Muntoni F, Torelli S, Wells DJ, Brown SC (2011) Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. Curr Opin Neurol 24(5):437–42

3. Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F (2007) Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 130(Pt 10):2725–35

4. Cormand B, Pihko H, Bayés M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE (2001) Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology 56(8):1059–69

5. Wells L (2013) The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy. J Biol Chem 288(10):6930–5

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1. Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up;Children;2024-06-28

2. The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization;Disease Models & Mechanisms;2024-06-01

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