Associated Papers
GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.
Damiano C et al.
Journal of Inherited Metabolic Disease, 2026
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
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.
Salam MAE et al.
Annals of Human Genetics, 2023
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
The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families.
Dardas Z et al.
European Journal of Medical Genetics, 2020
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission.
Nicolau S et al.
Neuromuscular Disorders : Nmd, 2019
Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.
Tian WT et al.
Annals of Clinical and Translational Neurology, 2019
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.
Fecarotta S et al.
Neuromuscular Disorders : Nmd, 2018
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
Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.
Bergant G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Expanding the phenotype of GMPPB mutations.
Cabrera-Serrano M et al.
Brain : a Journal of Neurology, 2015