Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement-Reference-Cited by-同舟云学术

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement

Published:2017-05 Issue:5 Volume:27 Page:481-486
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Missaglia Sara,Maggi Lorenzo,Mora Marina,Gibertini Sara,Blasevich Flavia,Agostoni Piergiuseppe,Moro Laura,Cassandrini Denise,Santorelli Filippo Maria,Gerevini Simonetta,Tavian Daniela

Funder

uroBioBank and the Telethon Network of Genetic Biobanks

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference22 articles.

1. The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB);Jordans;Acta Med Scand,1953

2. Improved cytochemical method for detecting Jordans' bodies in neutral-lipid storage diseases;Tavian;J Clin Pathol,2007

3. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy;Fischer;Nat Genet,2007

4. The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets;Kobayashi;J Clin Endocrinol Metab,2008

5. Distal lipid storage myopathy due to PNPLA2 mutation;Ohkuma;Neuromuscul Disord,2008

Cited by 27 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. Dilated cardiomyopathy caused by mutation of the PNPLA2 gene: a case report and literature review;Frontiers in Genetics;2024-07-25

3. An important role for triglyceride in regulating spermatogenesis;eLife;2024-05-28

4. An important role for triglyceride in regulating spermatogenesis;2024-03-04

5. An important role for triglyceride in regulating spermatogenesis;2024-02-07