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Therapy of collagen VI-related myopathies (Bethlem and Ullrich)

The collagen VI-related myopathies comprise two major forms, Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), which show a variable combination of muscle wasting and weakness, joint contractures, distal laxity, and respiratory compromise. Specific diagnosis requires molecular...

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Publicat a:Neurotherapeutics
Autors principals: Merlini, Luciano, Bernardi, Paolo
Format: Artigo
Idioma:Inglês
Publicat: Springer New York 2008
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4514708/
https://ncbi.nlm.nih.gov/pubmed/19019314
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nurt.2008.08.004
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