Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice-Reference-Cited by-同舟云学术

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

Published:2013-12-11 Issue:9 Volume:23 Page:2339-2352
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Zou Yaqun,Zwolanek Daniela,Izu Yayoi,Gandhy Shreya,Schreiber Gudrun,Brockmann Knut,Devoto Marcella,Tian Zuozhen,Hu Ying,Veit Guido,Meier Markus,Stetefeld Jörg,Hicks Debbie,Straub Volker,Voermans Nicol C.,Birk David E.,Barton Elisabeth R.,Koch Manuel,Bönnemann Carsten G.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/23/9/2339/14142924/ddt627.pdf

Reference63 articles.

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3. Predominant fiber atrophy and fiber type disproportion in early Ullrich disease;Schessl;Muscle Nerve,2008

4. ColVI myopathies: where do we stand, where do we go?;Allamand;Skelet. Muscle,2011

5. Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem;Zou;J. Neuropathol. Exp. Neurol.,2008

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