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Article

Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.

Journal of human genetics - 1 Oct 2012

Lin Pengfei, Li Wei, Wen Bing, Zhao Yuying, Fenster Danielle S, Wang Yongxiang, Gong Yaoqin, Yan Chuanzhu

Abstract excerpt

Neutral lipid storage disease with myopathy (NLSDM) referred to those neutral lipid storage disease (NLSD) patients with myopathy but without ichthyosis. Recently, NLSDM has been attributed to mutations in the PNPLA2 gene. Until now, 19 patients with PNPLA2 mutations have been reported. In the present study, we describe the clinical and genetic findings in three Chinese patients with NLSDM. Sequence analysis of...

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Identifiers

PMID: 22832386
DOI: 10.1038/jhg.2012.84

Genes

PNPLA2

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