ArticleJournal of neurology2020
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Article in Journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05618080 (GRASP-01-003), which is not on this map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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.
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.
GRASP-01-003: Trial Readiness and Endpoint Assessment in LGMD R1
Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Muscle MRI patterns for limb girdle muscle dystrophies: systematic review.Journal of neurology · 2023Pooled it
- Effect of sirolimus on muscle in inclusion body myositis observed with magnetic resonance imaging and spectroscopy.Journal of cachexia, sarcopenia and muscle · 2024Trial
- FAP adipogenesis drives early spinal muscle loss in dysferlinopathy and reveals a therapeutic target.EMBO molecular medicine · 2026Article
- Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3-deficient muscular dystrophy.Animal models and experimental medicine · 2026Article
- Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies.Annals of clinical and translational neurology · 2026Article
- Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing.Molecular genetics & genomic medicine · 2026Article
- French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice.Orphanet journal of rare diseases · 2026Review
- Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies.PloS one · 2026Article
- Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.Journal of neuromuscular diseases · 2025Review
- A rare homozygousJournal of neuromuscular diseases · 2025Article
- French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).Journal of neurology · 2024Review
- Evaluation of Neuromuscular Diseases and Complaints by Quantitative Muscle MRI.Journal of clinical medicine · 2024Article
- Case report: A single novel calpain 3 gene variant associated with mild myopathy.Frontiers in genetics · 2024Article
- Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.Journal of neurology · 2023Article
- A Straightforward Approach to Analyze Skeletal Muscle MRI in Limb-Girdle Muscular Dystrophy for Differential Diagnosis: A Systematic Review.Muscles (Basel, Switzerland) · 2023Review
- Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions.Orphanet journal of rare diseases · 2023Article
- Quantitative muscle MRI captures early muscle degeneration in calpainopathy.Scientific reports · 2022Article
- The Clinicopathological Distinction between Immune-Mediated Necrotizing Myopathy and Limb-Girdle Muscular Dystrophy R2: Key Points to Prevent Misdiagnosis.Journal of clinical medicine · 2022Article
- Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy.Journal of cachexia, sarcopenia and muscle · 2022Article
- Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.Journal of neurology · 2022Article
Corrections and comments
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Authors and funding
24 authors at 13 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLimb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) is a progressive myopathy caused by deficiency of calpain 3, a calcium-dependent cysteine protease of skeletal muscle, and it represents the most frequent type of LGMD worldwide. In the last few years, muscle magnetic resonance imaging (MRI) has been proposed as a tool for identifying patterns of muscular involvement in genetic disorders and as a biomarker of disease progression in muscle diseases. In this study, 57 molecularly confirmed LGMDR1 patients from a European cohort (age range 7-78 years) underwent muscle MRI and a global evaluation of functional status (Gardner-Medwin and Walton score and ability to raise the arms).
resultsWe confirmed a specific pattern of fatty substitution involving predominantly the hip adductors and hamstrings in lower limbs. Spine extensors were more severely affected than spine rotators, in agreement with higher incidence of lordosis than scoliosis in LGMDR1. Hierarchical clustering of lower limb MRI scores showed that involvement of anterior thigh muscles discriminates between classes of disease progression. Severity of muscle fatty substitution was significantly correlated with CAPN3 mutations: in particular, patients with no or one "null" alleles showed a milder involvement, compared to patients with two null alleles (i.e., predicting absence of calpain-3 protein). Expectedly, fat infiltration scores strongly correlated with functional measures. The "pseudocollagen" sign (central areas of sparing in some muscle) was associated with longer and more severe disease course.
conclusionsWe conclude that skeletal muscle MRI represents a useful tool in the diagnostic workup and clinical management of LGMDR1.
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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.