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Article

Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.

Orphanet journal of rare diseases - 26 Oct 2019

Zhang Wei, Wen Bing, Lu Jun, Zhao Yawen, Hong Daojun, Zhao Zhe, Zhang Cheng, Luo Yuebei, Qi Xueliang, Zhang Yingshuang, Song Xueqin, Zhao Yuying, Zhao Chongbo, Hu Jing, Yang Huan, Wang Zhaoxia, Yan Chuanzhu, Yuan Yun

Abstract excerpt

BACKGROUND: Neutral lipid storage disease with myopathy (NLSDM) is a rare clinical heterogeneous disorder caused by mutations in the patatin-like phospholipase domain-containing 2 (PNPLA2) gene. NLSDM usually presents skeletal myopathy, cardiomyopathy and the multiple organs dysfunction. Around 50 cases of NLSDM have been described worldwide, whereas the comprehensive understanding of this disease are still...

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Identifiers

PMID: 31655616
DOI: 10.1186/s13023-019-1209-z
PMCID: PMC6815004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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