Article
Diagnosis and etiology of congenital muscular dystrophy.
Neurology - 29 Jul 2008
Peat R A, Smith J M, Compton A G, Baker N L, Pace R A, Burkin D J, Kaufman S J, Lamandé S R, North K N
Abstract excerpt
OBJECTIVE: We aimed to determine the frequency of all known forms of congenital muscular dystrophy (CMD) in a large Australasian cohort. METHODS: We screened 101 patients with CMD with a combination of immunofluorescence, Western blotting, and DNA sequencing to identify disease-associated abnormalities in glycosylated alpha-dystroglycan, collagen VI, laminin alpha2, alpha7-integrin, and selenoprotein. RESULTS: A...
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