The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene-Reference-Cited by-同舟云学术

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

Published:2011-05-05 Issue:11 Volume:258 Page:1987-1997
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Reilich Peter,Horvath Rita,Krause Sabine,Schramm Nicolai,Turnbull Doug M.,Trenell Michael,Hollingsworth Kieren G.,Gorman Grainne S.,Hans Volkmar H.,Reimann Jens,MacMillan Andrée,Turner Lesley,Schollen Annette,Witte Gregor,Czermin Birgit,Holinski-Feder Elke,Walter Maggie C.,Schoser Benedikt,Lochmüller Hanns

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-011-6055-4.pdf

Reference37 articles.

1. Laforet P, Vianey-Saban C (2010) Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges. Neuromuscul Disord 20:693–700

2. Bruno C, Dimauro S (2008) Lipid storage myopathies. Curr Opin Neurol 21:601–606

3. Gempel K, Topaloglu H, Talim B et al (2007) The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 130:2037–2044

4. Olsen RK, Olpin SE, Andresen BS et al (2007) ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130:2045–2054

5. Nezu J, Tamai I, Oku A et al (1999) Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet 21:91–94

Cited by 89 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report;BMC Musculoskeletal Disorders;2024-08-23

2. HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy;Neuromuscular Disorders;2023-09

3. Ablation of pigment epithelium-derived factor receptor (PEDF-R/Pnpla2) causes photoreceptor degeneration;Journal of Lipid Research;2023-05

4. Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report;BMC Neurology;2023-04-27

5. Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.;2023-02-02