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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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Detalles Bibliográficos
Autores principales:	Saroja, Aralikatte Onkarappa, Naik, Karkal Ravishankar, Nalini, Atcharayam, Gayathri, Narayanappa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2013
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841639/ https://www.ncbi.nlm.nih.gov/pubmed/24339618 http://dx.doi.org/10.4103/0972-2327.120453

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