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Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation

Roberto Massa1, Simone Pozzessere2, Emanuele Rastelli1

  • 1Department of Systems Medicine (Neurology), University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.

Muscle & Nerve
|November 25, 2015
PubMed
Abstract

Keywords:
PNPLA2 mutationbraincognitive impairmentmyopathyneutral lipid-storage disease

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