ArticleHuman mutation2015
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00313677 (Clinical Trial Readiness for the Dystroglycanopathies), which is not on this map. Cited by 29 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical Trial Readiness for the Dystroglycanopathies
Who cites it
29 citing papers in PubMed, 3 syntheses or guidelines pooled it, 46 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
- Congenital myasthenic syndromes.Orphanet journal of rare diseases · 2019Pooled it
- Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.Molecular psychiatry · 2019Pooled it
- Gmppb-mutant mice exhibit dystroglycanopathy symptoms that are rescued with GSK3β inhibition or AAV-mediated GMPPB gene replacement.Nature communications · 2026Article
- Recent insights into limb-girdle muscular dystrophy: Impacts, therapy, and challenges.Histology and histopathology · 2025Review
- The evolving genetic landscape of neuromuscular fetal akinesias.Journal of neuromuscular diseases · 2025Review
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Consequences of GMPPB deficiency for neuromuscular development and maintenance.Frontiers in molecular neuroscience · 2024Article
- Ubiquitination contributes to the regulation of GDP-mannose pyrophosphorylase B activity.Frontiers in molecular neuroscience · 2024Article
- GDP-Mannose Pyrophosphorylase B (Genes · 2023Review
- The role of protein glycosylation in muscle diseases.Molecular biology reports · 2022Review
- Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview.Journal of molecular neuroscience : MN · 2022Review
- Molecular and cellular basis of genetically inherited skeletal muscle disorders.Nature reviews. Molecular cell biology · 2021Review
- Article
- GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB.Molecular biomedicine · 2021Article
- GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation.The Journal of clinical investigation · 2021Article
- Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies.Disease models & mechanisms · 2020Article
- [Advances in the diagnosis and treatment of congenital myasthenic syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Article
- Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.Bosnian journal of basic medical sciences · 2020Review
- Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).Neuromuscular disorders : NMD · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 6 institutions in 1 country.
Funding
Abstract
Mutations in GDP-mannose pyrophosphorylase B (GMPPB), a catalyst for the formation of the sugar donor GDP-mannose, were recently identified as a cause of muscular dystrophy resulting from abnormal glycosylation of α-dystroglycan. In this series, we report nine unrelated individuals with GMPPB-associated dystroglycanopathy. The most mildly affected subject has normal strength at 25 years, whereas three severely affected children presented in infancy with intellectual disability and epilepsy. Muscle biopsies of all subjects are dystrophic with abnormal immunostaining for glycosylated α-dystroglycan. This cohort, together with previously published cases, allows preliminary genotype-phenotype correlations to be made for the emerging GMPPB common variants c.79G>C (p.D27H) and c.860G>A (p.R287Q). We observe that c.79G>C (p.D27H) is associated with a mild limb-girdle muscular dystrophy phenotype, whereas c.860G>A (p.R287Q) is associated with a relatively severe congenital muscular dystrophy typically involving brain development. Sixty-six percent of GMPPB families to date have one of these common variants.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.