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1 Novel recessive mutations of COL6A1 identified in the early severe phenotype of ullrich congenital muscular dystrophy
Young-Eun Park, Jin-Hong Shin, Hyang-Sook Kim, Dae-Seong Kim
Ann Clin Neurophysiol.2018;20(2):89-92.   Published online 2018 July 30     DOI: http://dx.doi.org/10.14253/acn.2018.20.2.89
      
2 Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing
Hyung Jun Park, Young-Chul Choi, Seung Min Kim, Se Hoon Kim, Young Bin Hong, Bo Ram Yoon, Ki Wha Chung, Byung-Ok Choi
J Clin Neurol.2015;11(2):183-187.   Published online 2014 November 11     DOI: http://dx.doi.org/10.3988/jcn.2015.11.2.183
      
3 Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant
Yoonhong Park, Myung Seok Park, Duk Hyun Sung, Ji Yeon Sohn, Chang-Seok Ki, Du-Hwan Kim
Ann Rehabil Med.2014;38(2):292-296.   Published online 2014 April 29     DOI: http://dx.doi.org/10.5535/arm.2014.38.2.292
      

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