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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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| Pubblicato in: | Eur Neurol |
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| Autori principali: | , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
S. Karger AG
2020
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| Soggetti: | |
| 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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