Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene-Reference-Cited by-同舟云学术

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

Published:2011-01-19 Issue:4 Volume:19 Page:452-457
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Clarke Nigel F,Maugenre Svetlana,Vandebrouck Aurélie,Urtizberea J Andoni,Willer Tobias,Peat Rachel A,Gray Françoise,Bouchet Céline,Manya Hiroshi,Vuillaumier-Barrot Sandrine,Endo Tamao,Chouery Eliane,Campbell Kevin P,Mégarbané André,Guicheney Pascale

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2010212.pdf

Reference18 articles.

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3. Mathews KD, Rapisarda D, Bailey HL, Murray JC, Schelper RL, Smith R : Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy. J Neuropathol Exp Neurol 1995; 54: 601–606.

4. Grewal PK, Holzfeind PJ, Bittner RE, Hewitt JE : Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Nat Genet 2001; 28: 151–154.

5. Lee Y, Kameya S, Cox GA et al: Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases. Mol Cell Neurosci 2005; 30: 160–172.

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