Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy.
作者信息
Echeverría Constanza, Diaz Alejandra, Suarez Bernardita, Bevilacqua Jorge A, Bonnemann Carsten, Bertini Enrico, Castiglioni Claudia
机构信息
School of Medicine, Universida Católica de Chile, Santiago, Chile.
出版信息
Acta Derm Venereol. 2017 Feb 8;97(2):297-298. doi: 10.2340/00015555-2523.
Abstract
摘要
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本文引用的文献
1
Type VI Collagen Regulates Dermal Matrix Assembly and Fibroblast Motility.
J Invest Dermatol. 2016 Jan;136(1):74-83. doi: 10.1038/JID.2015.352.
2
Rare genetic diseases, signalling pathways, and keloid scar formation.
Br J Dermatol. 2014 Sep;171(3):452-3. doi: 10.1111/bjd.13257.
3
Col6a1 null mice as a model to study skin phenotypes in patients with collagen VI related myopathies: expression of classical and novel collagen VI variants during wound healing.
PLoS One. 2014 Aug 26;9(8):e105686. doi: 10.1371/journal.pone.0105686. eCollection 2014.
4
Keloids in Rubinstein-Taybi syndrome: a clinical study.
Br J Dermatol. 2014 Sep;171(3):615-21. doi: 10.1111/bjd.13124. Epub 2014 Aug 21.
5
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
Hum Mutat. 2013 Nov;34(11):1558-67. doi: 10.1002/humu.22429.
6
Spontaneous keloid formation in patients with Bethlem myopathy.
Neurology. 2012 Nov 20;79(21):2158. doi: 10.1212/WNL.0b013e3182752ebc.
7
The collagen VI-related myopathies: muscle meets its matrix.
Nat Rev Neurol. 2011 Jun 21;7(7):379-90. doi: 10.1038/nrneurol.2011.81.
8
Early onset collagen VI myopathies: Genetic and clinical correlations.
Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087.
9
Autosomal recessive inheritance of classic Bethlem myopathy.
Neuromuscul Disord. 2009 Dec;19(12):813-7. doi: 10.1016/j.nmd.2009.09.010. Epub 2009 Nov 1.
10
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.
Brain. 2009 Nov;132(Pt 11):3175-86. doi: 10.1093/brain/awp236. Epub 2009 Sep 18.
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