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

Wei ZhangBing WenJun LuYawen ZhaoDaojun HongZhe ZhaoCheng ZhangYuebei LuoXueliang QiYingshuang ZhangXueqin SongYuying ZhaoChongbo ZhaoJing HuHuan YangZhaoxia WangChuanzhu YanYun Yuan

Published in: Orphanet journal of rare diseases (2019)

We outline the clinical and genetic spectrum in a large cohort of NLSDM patients. Selective muscle fatty infiltration on posterior compartment of legs are characteristic of NLSDM. Chinese patients present with distinctive and relative hotspot PNPLA2 mutations. The disease onset age and pathological appearance of rimmed vacuoles are proved to be related with the clinical manifestations. The phenotypes are not strongly influenced by genetic defects, suggesting the multiple environmental risk factors in the development of NLSDM.

Keyphrases

risk factors
end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
genome wide
skeletal muscle
peritoneal dialysis
copy number
late onset
risk assessment
climate change
human health