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Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy

Objective: To investigate the clinical features, skeletal muscle imaging, muscle pathology, blood smear and so on of neutral lipid storage disease with myopathy (NLSDM) caused by PNPLA2 gene mutation. Methods: The clinical data, skeletal muscle imaging, pathological data, and genetic test results of...

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Detalles Bibliográficos
Autores principales:	Shi, Jiejing, Qu, Qianqian, Liu, Haiyan, Zhang, Yan, Cui, Wenhao, Chen, Ping, Lv, Haidong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862117/ https://www.ncbi.nlm.nih.gov/pubmed/33551761 http://dx.doi.org/10.3389/fnint.2020.554724

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