期刊
GENES & DISEASES
卷 8, 期 1, 页码 73-78出版社
ELSEVIER
DOI: 10.1016/j.gendis.2019.07.006
关键词
Cardiomyopathy; Lipid metabolism; Neutral lipid storage disease with myopathy; PNPLA2; Splicing mutation; Triglyceride lipase
资金
- Telethon Foundation [GGP14066]
Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder caused by enzymatic errors in lipid metabolism. It is characterized by skeletal muscle myopathy, variable cardiac and hepatic involvement, with mutations in the PNPLA2 gene being the underlying cause. Clinical presentation often includes early onset muscle weakness, particularly in the upper limbs, with a slowly evolving course over time.
Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder, due to an enzymatic error of lipid metabolism. Patients present always with skeletal muscle myopathy and variable cardiac and hepatic involvement. NLSDM is caused by mutations in the PNPLA2 gene, which encodes the adipose triglyceride lipase (ATGL). Here we report the molecular characterization and clinical findings of two NLSDM siblings carrying the novel c.187+1G > C homozygous PNPLA2 mutation, localized in the splice site of intron 2. Molecular analyses revealed that neither aberrant PNPLA2 mRNA isoforms, nor ATGL mutated protein were detectable in patient?s cells. Clinically, both patients presented early onset muscle weakness, in particular of proximal upper limb muscles. In almost 15 years, muscle damage affected also distal upper limbs. This is a NLSDM family, displaying a severe PNPLA2 mutation in two siblings with clinical presentation characterized by an early onset, but a slowly evolution of severe myopathy. Copyright (C) 2019, Chongqing Medical University. Production and hosting by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/ by-nc-nd/4.0/).
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