Article
A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.
Folia neuropathologica - 1 Jan 2017
Koppolu Agnieszka A, Madej-Pilarczyk Agnieszka, Rydzanicz Małgorzata, Kosińska Joanna, Gasperowicz Piotr, Dorszewska Jolanta, Kozubski Wojciech, Steinborn Barbara, Kochański Andrzej M, Płoski Rafał
Abstract excerpt
Collagen VI-related myopathy is a group of disorders affecting skeletal muscles and connective tissue. The most common symptoms are muscle weakness and joint deformities which limit the movement and progress over time. Several forms of collagen VI-related myopathies have been described: Bethlem myopathy, an intermediate form and Ullrich congenital muscular dystrophy, which is the most severe. Here we report a...
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