Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.
Chompoopong P et al.
Genes, 2023
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
Polavarapu K et al.
Neurogenetics, 2021
Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.
Sun L et al.
Bosnian Journal of Basic Medical Sciences, 2020
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Khan K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31036918 (PubMed )
Supplement: NIHMS1530558-supplement-Supplementary___Appendix__online_only_material__etc__.pdf
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Astrea G et al.
Orphanet Journal of Rare Diseases, 2018
Mutations in GMPPB Presenting with Pseudometabolic Myopathy.
Panicucci C et al.
Jimd Reports, 2018
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
Jensen BS et al.
Human Mutation, 2015
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Belaya K et al.
Brain : a Journal of Neurology, 2015
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
Raphael AR et al.
Brain Research, 2014
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