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...

Descripción completa

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

Internet

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

Ejemplares similares