ArticleTranslational pediatrics2025
A child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in the
Article in Translational pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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8 authors.
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Abstract
Background: Dystroglycanopathy is a genetically heterogeneous group of rare muscular dystrophies that affect the brain, muscles, and eyes, primarily resulting from impaired glycosylation of α-dystroglycan. In this study, we identify and characterize a novel heterozygous Case Description: We present a case of a 1-year and 5-month-old female with elevated creatine kinase (CK) levels and seizures, along with global developmental delay, microphthalmia, hypotonia, and myasthenia. Notably absent was ocular involvement. The serum CK levels typically fluctuated between 2,356 and 9,555 U/L. Video-electroencephalogram monitoring demonstrated abnormal discharge in the left anterior frontal region. Brain magnetic resonance imaging revealed numerous subcortical cysts in the bilateral cerebellar hemispheres and corpus callosum dysplasia. We performed whole-exome sequencing to identify compound heterozygous mutations in the Conclusions: We present a case of α-dystroglycanopathy caused by a novel splice site variant, c.1119+2T>G, in the
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