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
Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).
Jayakody H et al.
Journal of Neuropathology and Experimental Neurology, 2020
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Willer T et al.
Nature Genetics, 2012
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