{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9"],"submitter":["Yang H"],"funding":["Innovative Research Group Project of the National Natural Science Foundation of China"],"pubmed_abstract":["<i>ISPD</i> gene mutation-related diseases have high clinical and genetic heterogeneity, and no studies have yet reported any effective treatments. We describe six patients with dystroglycanopathies caused by <i>ISPD</i> gene mutations and analyze their genotypes and phenotypes to explore possible effective treatments. Our results confirm that the phenotype of limb-girdle muscular dystrophies can be easily misdiagnosed as Duchenne muscular dystrophy and that exon deletions of <i>ISPD</i> gene are relatively common. Moreover, low-dose prednisone therapy can improve patients' exercise ability and prolong survival and may be a promising new avenue for <i>ISPD</i> therapy."],"journal":["Frontiers in pediatrics"],"pagination":["710553"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8416436"],"repository":["biostudies-literature"],"pubmed_title":["Case Report: <i>ISPD</i> Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration."],"pmcid":["PMC8416436"],"pubmed_authors":["Yang H","Gan S","Wu L","Liao H","Cai F","Xiao T"],"additional_accession":[]},"is_claimable":false,"name":"Case Report: <i>ISPD</i> Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration.","description":"<i>ISPD</i> gene mutation-related diseases have high clinical and genetic heterogeneity, and no studies have yet reported any effective treatments. We describe six patients with dystroglycanopathies caused by <i>ISPD</i> gene mutations and analyze their genotypes and phenotypes to explore possible effective treatments. Our results confirm that the phenotype of limb-girdle muscular dystrophies can be easily misdiagnosed as Duchenne muscular dystrophy and that exon deletions of <i>ISPD</i> gene are relatively common. Moreover, low-dose prednisone therapy can improve patients' exercise ability and prolong survival and may be a promising new avenue for <i>ISPD</i> therapy.","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021","modification":"2025-04-27T03:02:36.443Z","creation":"2022-02-11T10:17:57.51Z"},"accession":"S-EPMC8416436","cross_references":{"pubmed":["34485198"],"doi":["10.3389/fped.2021.710553"]}}