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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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Главные авторы: Saroja, Aralikatte Onkarappa, Naik, Karkal Ravishankar, Nalini, Atcharayam, Gayathri, Narayanappa
Формат: Artigo
Язык:Inglês
Опубликовано: Medknow Publications & Media Pvt Ltd 2013
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Online-ссылка: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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