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A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing |
Yoong-a Suh, Young Bae Sohn, Moon Sung Park, Jang Hoon Lee |
Neonatal Med. 2021;28(2):89-93. Published online May 31, 2021 DOI: https://doi.org/10.5385/nm.2021.28.2.89 |
A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing Identification ofKLHL40mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence KHLH40 mutations causing severe neonatal nemaline myopathy Nemaline myopathy: Next generation sequencing (NGS) significantly improving the molecular classification of Brazilian families Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8 Understanding the Significance of Mutations in Tumor Suppressor Genes Identified Using Next-Generation Sequencing: A Case Report Congenital fiber type disproportion myopathy and novel compound heterozygous mutations in the RYR1 gene. Next generation sequencing – A first line diagnostic tool for congenital myopathy Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report Actinomyces as a Cause of Unexplained Fever Diagnosed by Next-Generation Sequencing: Case Report and Review Disseminated Strongyloides Stercoralis Hyperinfection in an Immunocompetent Patient First Diagnosed by Metagenomic Next-generation Sequencing in Cerebrospinal Fluid: a Case Report |