Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings

Published 2015 View Full Article

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Title
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings
Authors
Keywords
Neutral lipid storage disease, Myopathy, Hepatosteatosis, Diabetes mellitus, Lipase, Trialcylglycerol, Lipid droplets
Journal
MOLECULAR GENETICS AND METABOLISM
Volume 115, Issue 2-3, Pages 110-117
Publisher
Elsevier BV
Online
2015-05-03
DOI
10.1016/j.ymgme.2015.05.001

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