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: Saroja, Aralikatte Onkarappa, Naik, Karkal Ravishankar, Nalini, Atcharayam, Gayathri, Narayanappa
Format: Artigo
Language:Inglês
Published: Medknow Publications & Media Pvt Ltd 2013
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3841639/
https://ncbi.nlm.nih.gov/pubmed/24339618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0972-2327.120453
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