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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 |
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Neonatal Med. 2021;28(2):89-93. Published online May 31, 2021 DOI: https://doi.org/10.5385/nm.2021.28.2.89 |
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A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing Neonatal Medicine. 2021;28(2):89-93  Identification ofKLHL40mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence Prenatal Diagnosis. 2016;36(12):1135-1138 KHLH40 mutations causing severe neonatal nemaline myopathy Neuromuscular Disorders. 2017;27:S182 Nemaline myopathy: Next generation sequencing (NGS) significantly improving the molecular classification of Brazilian families Neuromuscular Disorders. 2015;25:S288 Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8 . 2022; Understanding the Significance of Mutations in Tumor Suppressor Genes Identified Using Next-Generation Sequencing: A Case Report Case Reports in Oncology. 2016;9(2):328-330 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 Neuromuscular Disorders. 2016;26:S137 Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report BMC Medical Genetics. 2020;21(1): Actinomyces as a Cause of Unexplained Fever Diagnosed by Next-Generation Sequencing: Case Report and Review . 2021; Disseminated Strongyloides Stercoralis Hyperinfection in an Immunocompetent Patient First Diagnosed by Metagenomic Next-generation Sequencing in Cerebrospinal Fluid: a Case Report . 2021; |
