Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis

Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis

Bethlem myopathy and Ullrich congenital muscular dystrophy form a spectrum of collagenopathies caused by genetic mutations encoding for any of the three subunits of collagen VI. Bethlem phenotype is relatively benign and is characterized by proximal dominant myopathy, keloids, contractures, distal h...

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Bibliographic Details
Main Authors: Aralikatte Onkarappa Saroja, Karkal Ravishankar Naik, Atcharayam Nalini, Narayanappa Gayathri
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2013-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
Bethlem myopathy
collagen VI
contractures
immunohistochemistry
keloids
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2013;volume=16;issue=4;spage=712;epage=715;aulast=Saroja

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