Author

Camille Verebi

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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

Review Aug 2026

Molecular Prenatal Diagnosis of Monogenic Diseases, Towards Non-invasive Procedures.

In this narrative review, we outline the historical progression of, and modern advancements in, prenatal diagnosis for monogenic diseases. Initially dependent on invasive sampling procedures, prenatal diagnosis has evolved through the integration of high-throughput molecular techniques, such as next-generation sequenci...

Camille Verebi, J. Nectoux, Thierry Bienvenu · Archives of Medical Research · 0 citations