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[A case report of end-stage dilated cardiomyopathy caused by neutral lipid storage disease].

Zhonghua xin xue guan bing za zhi - 24 May 2026

Dong F, Zhou Y, Jing R, Zhao Y F, Xiao L J, Tian S G

Abstract excerpt

中性脂肪沉积症伴肌病（NLSDM）是由PNPLA2基因突变引发的，以骨骼肌损害为主要临床表现的罕见代谢性肌病。该文报道了1例以扩张型心肌病为突出表现并行心脏移植，通过基因检测确诊为NLSDM的病例，旨在提醒临床医师NLSDM可能是心肌病的罕见病因。.

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Identifiers

PMID: 42161629
DOI: 10.3760/cma.j.cn112148-20250821-00593

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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