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Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.

World journal of pediatrics : WJP - 1 May 2014

Zhang Yan-Zhi, Zhao Dan-Hua, Yang Hai-Po, Liu Ai-Jie, Chang Xing-Zhi, Hong Dao-Jun, Bonnemann Carsten, Yuan Yun, Wu Xi-Ru, Xiong Hui

Abstract excerpt

BACKGROUND: We determined the clinical and molecular genetic characteristics of 8 Chinese patients with Ullrich congenital muscular dystrophy (UCMD). METHODS: Clinical data of probands were collected and muscle biopsies of patients were analyzed. Exons of COL6A1, COL6A2 and COL6A3 were analyzed by direct sequencing. Mutations in COL6A1, COL6A2 and COL6A3 were identified in 8 patients. RESULTS: Among these...

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PMID: 24801232
DOI: 10.1007/s12519-014-0481-1

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