ArticleThe journal of histochemistry and cytochemistry : official journal of the Histochemistry Society2008
Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene.
Article in The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 21 citations in OpenAlex.
- Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9.Neurology. Genetics · 2026Article
- Multi-parametric quantitative MRI of the lower limb muscles in a longitudinal study of limb-girdle muscular dystrophy R9.PloS one · 2025Article
- Limb-Girdle Muscular Dystrophies Classification and Therapies.Journal of clinical medicine · 2023Review
- Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients.Acta neurologica Belgica · 2021Article
- Fukutin-Related Protein: From Pathology to Treatments.Trends in cell biology · 2021Review
- Theragnosis for Duchenne Muscular Dystrophy.Frontiers in pharmacology · 2021Article
- Clinical, genetic, and pathologic characterization ofNeurology. Genetics · 2019Article
- The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.Human molecular genetics · 2014Article
- Titin mutation segregates with hereditary myopathy with early respiratory failure.Brain : a journal of neurology · 2012Article
- Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected].The American journal of pathology · 2011Article
- Neuromuscular disorders: genes, genetic counseling and therapeutic trials.Genetics and molecular biologyArticle
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8 authors at 1 institution in 1 country.
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Abstract
Fukutin-related protein (FKRP) is a protein involved in the glycosylation of cell surface molecules. Pathogenic mutations in the FKRP gene cause both the more severe congenital muscular dystrophy Type 1C and the milder Limb-Girdle Type 2I form (LGMD2I). Here we report muscle histological alterations and the analysis of 11 muscle proteins: dystrophin, four sarcoglycans, calpain 3, dysferlin, telethonin, collagen VI, alpha-DG, and alpha2-laminin, in muscle biopsies from 13 unrelated LGMD2I patients with 10 different FKRP mutations. In all, a typical dystrophic pattern was observed. In eight patients, a high frequency of rimmed vacuoles was also found. A variable degree of alpha2-laminin deficiency was detected in 12 patients through immunofluorescence analysis, and 10 patients presented alpha-DG deficiency on sarcolemmal membranes. Additionally, through Western blot analysis, deficiency of calpain 3 and dystrophin bands was found in four and two patients, respectively. All the remaining proteins showed a similar pattern to normal controls. These results suggest that, in our population of LGMD2I patients, different mutations in the FKRP gene are associated with several secondary muscle protein reductions, and the deficiencies of alpha2-laminin and alpha-DG on sections are prevalent, independently of mutation type or clinical severity.
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