Clinical, immunohistochemical, Western blot, and genetic analysis in dystrophinopathy.

doi:10.1016/j.jocn.2012.09.021

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Article

Clinical, immunohistochemical, Western blot, and genetic analysis in dystrophinopathy.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Aug 2013

Na Sang-Jun, Kim Won-Joo, Kim Seung Min, Lee Kee Ook, Yoon Bora, Choi Young-Chul

Abstract excerpt

Dystrophin-deficient muscular dystrophies (dystrophinopathies) are the most common form of muscular dystrophy, with variable clinical phenotypes ranging from the severe Duchenne (DMD) to the milder Becker (BMD) forms. In this study, we investigated the relationship between clinical characteristics, findings at immunohistochemistry (IHC) and Western blot, and the pattern of exon deletions in 24 male patients with...

Topics

Adolescent
Adult
Age of Onset
Child
Child, Preschool
Humans
Male
Muscular Dystrophy, Duchenne
Phenotype
Young Adult

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PMID: 23790620
DOI: 10.1016/j.jocn.2012.09.021

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