Diagnosis and etiology of congenital muscular dystrophy

Abstract

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 α-dystroglycan, collagen VI, laminin α2, α7-integrin, and selenoprotein. Results:: A total of 45% of the CMD cohort were assigned to an immunofluorescent subgroup based on their abnormal staining pattern. Abnormal staining for glycosylated α-dystroglycan was present in 25% of patients, and approximately half of these had reduced glycosylated α-dystroglycan by Western blot. Se..