Abstract
To analyze the clinical features and genetic basis for a child featuring elevated creatine kinase (CK). Next-generation sequencing (muscular dystrophy related gene panel) was carried out for the proband. Candidate variants were verified by Sanger sequencing of the child and his parents. The child was found to harbor compound heterozygous variants of the FKTN gene, including a missense c.536G>C (p.R179T) variant from his father and a non-frameshift c.1299_1301delGTG (p.W434del) variant from his mother. Both variants were predicted to be pathogenic. The compound heterozygous variants of the FKTN gene probably underlay the disease in this child. Above finding has expanded the mutation spectrum of congenital muscular dystrophy.
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