Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders

H. J. Park, H. Jang, J. H. Kim, J. H. Lee, H. Y. Shin, S. M. Kim, K. D. Park, S. V. Yim, J. H. Lee, Y. C. Choi

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22 Scopus citations


Inherited muscular disorders (IMDs) are clinically and genetically heterogeneous genetic disorders. We investigated the mutational spectrum and genotype–phenotype correlations in Korean patients with IMD. We developed a targeted panel of 69 known IMD genes and recruited a total of 209 Korean patients with IMD. Targeted capture sequencing identified 994 different variants. Among them, 98 variants were classified as pathogenic/likely pathogenic variants; 38 were novel variations. A total of 39 patients had the pathogenic/likely pathogenic variants. Among them, 75 (36%) patients were genetically confirmed, and 18 (9%) patients had one heterozygous variant of recessive myopathy. However, two genetically confirmed patients had an additional heterozygous variant of another recessive myopathy. Four patients with one heterozygous variant of a recessive myopathy showed different phenotypes, compared with the known phenotype of the identified gene. The major causative genes of Korean patients with IMDs were DMD (19 patients), COL6A1 (9), DYSF (9), GNE (7), LMNA (7), CAPN3 (6), and RYR1 (5). This study showed the mutational and clinical spectra in Korean patients with IMD and confirmed the usefulness of strategies utilizing targeted sequencing.

Original languageEnglish
Pages (from-to)403-410
Number of pages8
JournalClinical Genetics
Issue number3
StatePublished - 1 Mar 2017

Bibliographical note

Funding Information:
The authors would like to thank the patients and their families for their essential help with this work. This research was supported by a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health & Welfare, Republic of Korea (grant number: HI14C0060) and by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Science, ICT, and Future Planning (grant number: NRF-2015R1A2A2A03006577). Author contributions: H. J. P., J. H. L. and Y. -C. C. designed the study concept. H. J. P. H. J. J. H. K., J. H. L., H. Y. S., S. M. K., and K. D. P. performed data acquisition and analysis. H. J. P., H. J., J. H. L., and Y. -C. C. drafted the manuscript. H. J. P., H. J., S. -V. Y., J. H. L., and Y. -C. C. revised the manuscript. All authors reviewed the manuscript.

Publisher Copyright:
© 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd


  • diagnosis
  • genotype–phenotype correlation
  • inherited muscular disorder
  • pathogenic variant
  • targeted sequencing


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