Mutation in the caveolin-3 gene causes asymmetrical distal myopathy
Author:
Affiliation:
1. Department of Neurology; Peking University Shenzhen Hospital; Shenzhen China
Publisher
Wiley
Subject
Neurology (clinical),General Medicine,Pathology and Forensic Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/neup.12297/fullpdf
Reference21 articles.
1. The Caveolin genes: from cell biology to medicine;Williams;Ann Med,2004
2. CAV3 gene sequence variations: National Genome Database and clinics;Stavusis;Acta Neurol Scand,2015
3. Caveolinopathies: from the biology of caveolin-3 to human diseases;Gazzerro;Eur J Hum Genet,2010
4. Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro;Traverso;Lab Invest,2008
5. Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy;Nonaka;Curr Neurol Neurosci Rep,2005
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