ArticleEuropean journal of human genetics : EJHG2011
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- Diagnostic approach to the congenital muscular dystrophies.Neuromuscular disorders : NMD · 2014Guideline
- A Novel LAMA2 Mutation (c.7412G>A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy.Journal of cellular and molecular medicine · 2025Article
- LARGE protein drives activity-induced homeostatic resetting.Science advances · 2025Article
- Malformations of Core M3 on α-Dystroglycan Are the Leading Cause of Dystroglycanopathies.Journal of molecular neuroscience : MN · 2025Review
- Protein O-mannosylation: one sugar, several pathways, many functions.Glycobiology · 2023Review
- Unraveling the Multifaceted Role of the Golgi Apparatus: Insights into Neuronal Plasticity, Development, Neurogenesis, Alzheimer's Disease, and SARS-CoV-2 Interactions.Brain sciences · 2023Review
- Article
- A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.Journal of neuromuscular diseases · 2022Article
- Muscular dystrophy-dystroglycanopathy in a family of Labrador retrievers with a LARGE1 mutation.Neuromuscular disorders : NMD · 2021Article
- Identification and Modeling of a GT-A Fold in the α-Dystroglycan Glycosylating Enzyme LARGE1.Journal of chemical information and modeling · 2020Article
- Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy.PLoS genetics · 2020Article
- Muscle satellite cells and impaired late stage regeneration in different murine models for muscular dystrophies.Scientific reports · 2019Article
- LARGE, an intellectual disability-associated protein, regulates AMPA-type glutamate receptor trafficking and memory.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- The genomic landscape of African populations in health and disease.Human molecular genetics · 2017Review
- 22q12.3 microduplication overlapping theBiomedical reports · 2017Article
- Behavioral Responses in Animal Model of Congenital Muscular Dystrophy 1D.Molecular neurobiology · 2016Article
- A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.Journal of community genetics · 2015Article
- POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.Human molecular genetics · 2014Article
- Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues.The Journal of biological chemistry · 2014Article
- Article
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15 authors at 9 institutions in 4 countries.
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Abstract
Mutation of the LARGE gene is the rarest of the six known genetic causes of α-dystroglycanopathy. We report further a family with MDC1D due to a complex genomic rearrangement that was not apparent on standard sequencing of LARGE. Two sisters in a consanguineous family had moderate mental retardation and cerebellar malformations, together with dystrophic changes and markedly reduced α-dystroglycan glycosylation staining on muscle biopsy. There was homozygous linkage to the LARGE locus but sequencing of LARGE coding regions was normal. Analysis of LARGE cDNA showed an abnormal sequence inserted between exons 10 and 11, in most of the transcripts, predicted to introduce a premature stop codon. The abnormal sequence mapped to a spliced EST (DA935254) of unknown function, normally located at 100 kb centromeric of LARGE on chromosome 22q12.3. Quantitative PCR analysis of the EST and adjacent regions showed twice the normal copy number in patients' genomic DNA samples, consistent with a large intra-chromosomal duplication inserted into intron 10 of LARGE in a homozygous state. This insertion was associated with deletion of a central region of intron 10, but the exact break points of the deletion/duplication were not found, suggesting that an even more complex rearrangement may have occurred. The exact function of LARGE, a golgi protein, remains uncertain. POMT and POMGnT enzyme activities were normal in patients' lymphoblast cells, suggesting that defects in LARGE do not affect the initiation of O-mannosyl glycans.
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