Clinicopathological-genetic features of neutral lipid storage disease with myopathy from a Chinese neuromuscular center by Yi-Ning Luan, Guan-Zhong Shi, Qiu-Xiang Li, Kun Huang, Huan Yang

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Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy by Sara Missaglia, Sara Missaglia, Eleonora Martegani, Eleonora Martegani, Corrado Angelini, Rita Horvath, Veronika Karcagi, Endre Pal, Endre Pal, Daniela Tavian, Daniela Tavian

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