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Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement
Neutral lipid storage disease with myopathy (NLSDM) presents with skeletal muscle myopathy and severe dilated cardiomyopathy in nearly 40% of cases. NLSDM is caused by mutations in the PNPLA2 gene, which encodes the adipose triglyceride lipase (ATGL). Here we report clinical and genetic findings of...
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| 出版年: | Neuromuscul Disord |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Pergamon Press
2017
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5424884/ https://ncbi.nlm.nih.gov/pubmed/28258942 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2017.01.011 |
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