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Cited article:

Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy

Sara Missaglia, Eleonora Martegani, Corrado Angelini, Rita Horvath, Veronika Karcagi, Endre Pal and Daniela Tavian
Frontiers in Genetics 16 (2025)
https://doi.org/10.3389/fgene.2025.1642442

Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease

Catarina Olimpio, Ida Paramonov, Leslie Matalonga, Steven Laurie, Katherine Schon, Kiran Polavarapu, Janbernd Kirschner, Ulrike Schara-Schmidt, Hanns Lochmüller, Patrick F. Chinnery and Rita Horvath
Journal of Neuromuscular Diseases 11 (4) 767 (2024)
https://doi.org/10.3233/JND-240020