Associated Papers
A child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in the CRPPA gene: a case report and literature review.
Zhang S et al.
Translational Pediatrics, 2025
Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration.
Yang H et al.
Frontiers in Pediatrics, 2021
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F et al.
Bmc Neurology, 2015
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Vuillaumier-Barrot S et al.
American Journal of Human Genetics, 2012
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