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Article

Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report.

BMC musculoskeletal disorders - 23 Aug 2024

Yang Tong, Zhu Jie, Kang Yulai, Tang Chunhua, Zhang Lili, Guo Lu

Abstract excerpt

BACKGROUND: Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare lipid metabolism disorder caused by PNPLA2 gene mutations. Clinical manifestations are heterogeneous, and diagnosis is often delayed, usually gaining patients' attention due to the increased risk of cardiomyopathy. CASE PRESENTATION: We herein report a 36-year-old Asian male presenting with progressive limb weakness, muscle atrophy of limbs...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39174932
DOI: 10.1186/s12891-024-07772-9
PMCID: PMC11342685

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