Neutral lipid storage disease with myopathy is caused by mutations in PNPLA2, which produce skeletal and cardiac myopathy. We report a man with multi-organ neutral lipid storage and unusual multisystem clinical involvement, including cognitive impairment.
Neutral lipid storage disease with myopathy and extended phenotype with novel PNPLA2 mutation / Massa, Roberto; Pozzessere, Simone; Rastelli, Emanuele; Serra, Laura; Terracciano, Chiara; Gibellini, Manuela; Bozzali, Marco; Arca, Marcello. - In: MUSCLE & NERVE. - ISSN 0148-639X. - STAMPA. - (2016), pp. n/a-n/a. [10.1002/mus.24983]
Neutral lipid storage disease with myopathy and extended phenotype with novel PNPLA2 mutation
POZZESSERE, SIMONE;ARCA, Marcello
2016
Abstract
Neutral lipid storage disease with myopathy is caused by mutations in PNPLA2, which produce skeletal and cardiac myopathy. We report a man with multi-organ neutral lipid storage and unusual multisystem clinical involvement, including cognitive impairment.File allegati a questo prodotto
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