ArticleOrphanet journal of rare diseases2018
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features.Epileptic disorders : international epilepsy journal with videotape · 2026Pooled it
- Muscle MRI patterns for limb girdle muscle dystrophies: systematic review.Journal of neurology · 2023Pooled it
- Gmppb-mutant mice exhibit dystroglycanopathy symptoms that are rescued with GSK3β inhibition or AAV-mediated GMPPB gene replacement.Nature communications · 2026Article
- GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.Journal of inherited metabolic disease · 2026Article
- Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.Journal of translational medicine · 2025Article
- The evolving genetic landscape of neuromuscular fetal akinesias.Journal of neuromuscular diseases · 2025Review
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Ubiquitination contributes to the regulation of GDP-mannose pyrophosphorylase B activity.Frontiers in molecular neuroscience · 2024Article
- Consequences of GMPPB deficiency for neuromuscular development and maintenance.Frontiers in molecular neuroscience · 2024Article
- GDP-Mannose Pyrophosphorylase B (Genes · 2023Review
- [Genomics and proteomics in the research of neuromuscular diseases].Der Nervenarzt · 2022Review
- Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare, a successful partnership for neuromuscular healthcare research of value for patients.Orphanet journal of rare diseases · 2021Review
- Article
- GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB.Molecular biomedicine · 2021Article
- Congenital myasthenic syndrome in China: genetic and myopathological characterization.Annals of clinical and translational neurology · 2021Article
- Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.Journal of neuromuscular diseases · 2021Article
- Congenital disorders of glycosylation: A multi-genetic disease family with multiple subcellular locations.Journal of mother and child · 2020Review
- Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.Neurology. Genetics · 2019Article
- A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission.Neuromuscular disorders : NMD · 2019Article
- Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.Annals of clinical and translational neurology · 2019Article
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Authors and funding
36 authors at 15 institutions in 4 countries.
Funding
Abstract
backgroundDystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan. To date, mutations in at least 19 genes have been associated with α-DG. One of them, GMPPB, encoding the guanosine-diphosphate-mannose (GDP-mannose) pyrophosphorylase B protein, has recently been associated with a wide clinical spectrum ranging from severe Walker-Warburg syndrome to pseudo-metabolic myopathy and even congenital myasthenic syndromes. We re-sequenced the full set of known disease genes in 73 Italian patients with evidence of either reduced or nearly absent α-dystroglycan to assess genotype-phenotype correlations in this cohort. We used innovative bioinformatic tools to calculate the effects of all described GMPPB mutations on protein function and attempted to correlate them with phenotypic expressions.
resultsWe identified 13 additional cases from 12 families and defined seven novel mutations. Patients displayed variable phenotypes including less typical pictures, ranging from asymptomatic hyperCKemia, to arthrogryposis and congenital clubfoot at birth, and also showed neurodevelopmental comorbidities, such as seizures and ataxic gait, as well as autism-spectrum disorder, which is seldom described in clinical reports of dystroglycanopathies. We also demonstrated that few mutations recur in the Italian GMPPB-mutated population and that alterations of protein stability are the main effects of GMPPB missense variants.
conclusionThis work adds to the data on genotype-phenotype correlations in α-DG and offers new bionformatic tools to provide the conceptual framework needed to understand the complexity of these disorders.
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