Abstract
Recently, mutations in PNPLA2 encoding adipose triglyceride lipase (ATGL) were reported to underlie a neutral lipid storage disease (NLSD) subgroup characterized by mild myopathy and the absence of ichthyosis. In the present study a novel homozygous PNPLA2 mutation c.475_478dupCTCC (p.Gln160ProfsX19) in the patatin domain, the ATGL active site, was detected in a woman with NLSD and severe myopathy. The present results suggest that a premature truncation mutation in the patatin domain causes NLSD with severe myopathy.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Biopsy
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DNA Mutational Analysis
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Female
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics*
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Humans
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Ichthyosis / enzymology
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Ichthyosis / genetics
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Leukocytes / enzymology
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Leukocytes / pathology
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Leukocytes / ultrastructure
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Lipase / genetics*
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Lipid Metabolism Disorders / enzymology
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Lipid Metabolism Disorders / genetics*
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Lipid Metabolism, Inborn Errors / enzymology
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Lipid Metabolism, Inborn Errors / genetics
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Lipid Metabolism, Inborn Errors / physiopathology
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Muscle, Skeletal / enzymology*
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Muscular Diseases / enzymology
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Muscular Diseases / genetics*
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Muscular Diseases / physiopathology
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Mutation / genetics*
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Protein Structure, Tertiary / genetics
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Syndrome
Substances
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Genetic Markers
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Lipase
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PNPLA2 protein, human