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    The homozygous missense variant in the GOSR2 gene (c.430G > T) is known to be associated with progressive myoclonic epilepsy (PME). The clinical presentation of GOSR2-related PME involves the development of ataxia, seizures, scoliosis, areflexia, and mildly elevated creatine kinase. Recently, it has been suggested that some compound heterozygous variants in GOSR2 are associated with a predominant muscular dystrophy phenotype. Here we report a case of a now 22 month old female who presented with congenital hypotonia and persistently elevated creatine kinase levels. Whole exome sequencing showed pathogenic compound heterozygous variants in GOSR2 (c.430G > T and c.82C > T). This case contributes to the expanding clinical spectrum of GOSR2 variants with PME representing the milder end and congenital muscular dystrophy representing the more severe end of the spectrum. Copyright © 2021 Elsevier Masson SAS. All rights reserved.

    Citation

    Hannah Henige, Shagun Kaur, Kara Pappas. Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report. European journal of medical genetics. 2021 Apr;64(4):104184


    PMID: 33639315

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