Author

F. Leturcq

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Case report Open access Aug 2026

Case Report: Pediatric immune-mediated necrotizing myopathies mimicking inherited muscle disorders: clinical, paraclinical, and genetic insights from two cases

Objectives Immune-mediated necrotizing myopathies (IMNMs) are a group of rare acquired myopathies. We describe two pediatric cases presenting with early-onset proximal and axial muscle weakness, rhabdomyolysis, and progressive evolution mimicking limb-girdle muscular dystrophy. Methods This retrospective case series is...

Gianmarco Severa, María Camila Cortés-Rojas, M. Gómez-García de la Banda et al. · Frontiers in Pediatrics · 0 citations

Open access Sep 2026

Genome sequencing improves diagnostic outcomes over panel and exome sequencings in myopathies: findings from the French PFMG2025 initiative

Genome Sequencing showed GS as a valuable and feasible approach allowing the elucidation of complex variants and the discovery of new pathogenic mechanisms in the context of myopathy, as part of a large national scale GS strategy piloted by the French Genomic Medicine Initiative.

Camille Verebi, A. Maino, C. Métay et al. · Genome Medicine · 0 citations

Open access Jul 2026

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing

Diagnosing rare muscle diseases can be challenging due to their genetic heterogeneity. The French National Network for Rare Neuromuscular Diseases (FILNEMUS) has previously established a pioneering nationwide strategy based on gene lists organized in 13 phenotype-specific gene panels. We now revise these lists and add...

E. Pion, M. Cossée, Valérie Biancalana et al. · Journal of Neuromuscular Dis... · 0 citations