Associated Papers
CRPPA exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy.
Luo J et al.
Pediatric Investigation, 2026
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
A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.
Khalilian S et al.
Human Genomics, 2025
Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.
Lin F et al.
Orphanet Journal of Rare Diseases, 2023
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report.
Yang M et al.
World Journal of Clinical Cases, 2021
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
Song D et al.
Clinical Genetics, 2021
Case Report: ISPD Gene Mutation Leads to Dystroglycanopathies: Genotypic Phenotype Analysis and Treatment Exploration.
Yang H et al.
Frontiers in Pediatrics, 2021
A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients.
Song D et al.
Clinical Genetics, 2020
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.
van Tol W et al.
Clinical Chemistry, 2019
O-glycosylation disorders pave the road for understanding the complex human O-glycosylation machinery.
van Tol W et al.
Current Opinion in Structural Biology, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
31127727 (PubMed )
Supplement: sj-xlsx-2-jnd-10.3233_jnd-180376.xlsx › Blad1
Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.
Tasca G et al.
Neurology, 2013
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Cirak S et al.
Brain : a Journal of Neurology, 2013
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