Associated Papers
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf
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
GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB.
Liu Z et al.
Molecular Biomedicine, 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
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).
Gonzalez-Perez P et al.
Neuromuscular Disorders : Nmd, 2020
Mutations in GMPPB Presenting with Pseudometabolic Myopathy.
Panicucci C et al.
Jimd Reports, 2018
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
Luo S et al.
Neuromuscular Disorders : Nmd, 2017
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
Oestergaard ST et al.
Neurology. Genetics, 2016
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
Rodríguez Cruz PM et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
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
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