Associated Papers
Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.
Hu C et al.
Human Mutation, 2024
Causative variant profile of collagen VI-related dystrophy in Japan.
Inoue M et al.
Orphanet Journal of Rare Diseases, 2021
[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
Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy.
Noguchi S et al.
Ebiomedicine, 2017
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
Kitamura Y et al.
Journal of Human Genetics, 2016
Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.
Zhang YZ et al.
World Journal of Pediatrics : Wjp, 2014
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
Butterfield RJ et al.
Human Mutation, 2013
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.
Yonekawa T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.
Kawahara G et al.
Muscle & Nerve, 2008
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