Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity

Highlights • We studied factors involved in Becker disease severity in 24 patients. • Severity was assessed by quantitative muscle testing and age at disease milestones. • Dystrophin-associated proteins and utrophin expression were investigated. • An inverse relation between disease severity and utr...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2015-03, Vol.25 (3), p.231-237
Hauptverfasser:	van den Bergen, J.C, Wokke, B.H.A, Hulsker, M.A, Verschuuren, J.J.G.M, Aartsma-Rus, A.M
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Becker muscular dystrophy Disease Progression Dystroglycans - metabolism Dystrophin associated glycoprotein complex Humans Immunohistochemistry Kaplan-Meier Estimate Middle Aged Muscle Strength - physiology Muscle, Skeletal - pathology Muscle, Skeletal - physiopathology Muscular Dystrophy, Duchenne - diagnosis Muscular Dystrophy, Duchenne - genetics Muscular Dystrophy, Duchenne - pathology Muscular Dystrophy, Duchenne - physiopathology Neurology Nitric Oxide Synthase Type I - metabolism nNOS Sarcoglycans - metabolism Sarcolemma - metabolism Sarcolemma - pathology Severity of Illness Index Surveys and Questionnaires Utrophin Utrophin - metabolism Young Adult
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Zusammenfassung:	Highlights • We studied factors involved in Becker disease severity in 24 patients. • Severity was assessed by quantitative muscle testing and age at disease milestones. • Dystrophin-associated proteins and utrophin expression were investigated. • An inverse relation between disease severity and utrophin expression existed. • No relation between the other proteins, including nNOS, and disease severity existed.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2015.01.002