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

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 patient...

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Veröffentlicht in:	Clinical genetics 2017-03, Vol.91 (3), p.403-410
Hauptverfasser:	Park, H.J., Jang, H., Kim, J.H., Lee, J.H., Shin, H.Y., Kim, S.M., Park, K.D., Yim, S.‐V., Choi, Y.‐C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult diagnosis Female Genetic Association Studies Genetic disorders Genetic Heterogeneity Genotype & phenotype Genotypes genotype–phenotype correlation High-Throughput Nucleotide Sequencing Humans inherited muscular disorder Male Muscular Diseases - genetics Muscular Diseases - physiopathology Musculoskeletal diseases Mutation Myopathy pathogenic variant Pedigree Phenotypes Republic of Korea Ryanodine receptors targeted sequencing
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