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Article

Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China.

Clinical neurology and neurosurgery - 1 May 2018

Tan Jiaze, Yang Haitao, Fan Jingchuan, Fan Yulan, Xiao Fei

Abstract excerpt

OBJECTIVES: Neutral lipid storage disease with myopathy (NLSDM) is a rare metabolic myopathy occurring owing to mutations in the patatin like phospholipase domain containing 2 (PNPLA2) gene. Till date, less than 50 patients with PNPLA2 mutations have been reported. In this study, we describe the clinical, pathological, and genetic findings, and muscle magnetic resonance imaging (MRI) changes in four Chinese...

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Identifiers

PMID: 29539587
DOI: 10.1016/j.clineuro.2018.03.001

Genes

PNPLA2

Provenance

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