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Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review

Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy (NLSDM) or triglyceride deposit cardiomyovasculopathy. We report a detailed case study of a 53-year-old man with NLSDM. The PNPLA2 gene was analyzed according to the reported method. We summarized the clinical, laboratory...

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Dettagli Bibliografici
Pubblicato in:Eur Neurol
Autori principali: Samukawa, Makoto, Nakamura, Naoko, Hirano, Makito, Morikawa, Miyuki, Sakata, Hanami, Nishino, Ichizo, Izumi, Rumiko, Suzuki, Naoki, Kuroda, Hiroshi, Shiga, Kensuke, Saigoh, Kazumasa, Aoki, Masashi, Kusunoki, Susumu
Natura: Artigo
Lingua:Inglês
Pubblicazione: S. Karger AG 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7592920/
https://ncbi.nlm.nih.gov/pubmed/32564019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000508346
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