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A Novel Mutation in PNPLA2 Leading to Neutral Lipid Storage Disease With Myopathy
BACKGROUND: Mutations in PNPLA2, a gene encoding adipose triglyceride lipase, lead to neutral lipid storage disease with myopathy. OBJECTIVE: To report the clinical and molecular features of a case of neutral lipid storage disease with myopathy resulting from a novel mutation in PNPLA2. DESIGN: Case...
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| הוצא לאור ב: | Arch Neurol |
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| Main Authors: | , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2012
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4961086/ https://ncbi.nlm.nih.gov/pubmed/22964912 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2011.2600 |
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