ArticleJournal of medical genetics2023
Expanding the phenotypic spectrum of
Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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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.
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Who cites it
5 citing papers in PubMed, 11 citations in OpenAlex.
- Balanced Translocations Involving theInternational journal of molecular sciences · 2025Article
- Biological Basis of Cell Trafficking: A General Overview.Journal of inherited metabolic disease · 2025Review
- Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders.Journal of inherited metabolic disease · 2025Article
- Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy.Arthritis research & therapy · 2024Article
- TRAPPopathies: Severe Multisystem Disorders Caused by Variants in Genes of the Transport Protein Particle (TRAPP) Complexes.International journal of molecular sciences · 2024Review
Corrections and comments
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Authors and funding
32 authors at 15 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLimb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders. TRAPPC11-related LGMD is an autosomal-recessive condition characterised by muscle weakness and intellectual disability.
methodsA clinical and histopathological characterisation of 25 Roma individuals with LGMD R18 caused by the homozygous
resultsThe c.1287+5G>A variant leads to a phenotype characterised by early onset muscle weakness, movement disorder, intellectual disability and elevated serum creatine kinase, which is similar to other series. As novel clinical findings, we found that microcephaly is almost universal and that infections in the first years of life seem to act as triggers for a psychomotor regression and onset of seizures in several individuals with
conclusionWe provide a comprehensive phenotypic characterisation of the pathogenic variant
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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.