Associated Papers
[Clinical features and FKRP mutations of congenital muscular dystrophy 1C].
Hong XW et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.
Ankala A et al.
Annals of Neurology, 2015
Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.
Zhang YZ et al.
World Journal of Pediatrics : Wjp, 2014
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies.
Gualandi F et al.
Muscle & Nerve, 2011
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.
Bovolenta M et al.
Bmc Medical Genetics, 2010
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