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Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.

Muscle & nerve - 1 Sept 2018

Kim Soo Yeon, Kim Woo Joong, Kim Hyuna, Choi Sun Ah, Lee Jin Sook, Cho Anna, Jang Se Song, Lim Byung Chan, Kim Ki Joong, Kim Jong-Il, Hahn Si Houn, Chae Jong-Hee

Abstract excerpt

INTRODUCTION: We aimed to analyze the clinical and genetic characteristics of collagen VI-related myopathy. METHODS: We analyzed the clinical course and mutation spectrum in patients with collagen VI gene mutations among our congenital muscular dystrophy cohort. RESULTS: Among 24 patients with mutations in collagen VI coding genes, 13 (54.2%) were categorized as Ullrich type, and 11 (45.8%) as non-Ullrich type....

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PMID: 29406609
DOI: 10.1002/mus.26093

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