Cargando…

Neutral lipid storage disease with myopathy: A 10-year follow-up case report

Mutations in PNPLA2 gene encoding for adipose triglyceride lipase (ATGL), involved in triglyceride degradation, lead to an inborn error of neutral lipid metabolism. The disorder that results in abnormal storage of neutral lipid is known as neutral lipid storage disease with myopathy (NLSDM). We repo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Missaglia, Sara, Tavian, Daniela, Angelini, Corrado
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	PAGEPress Publications, Pavia, Italy 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295162/ https://www.ncbi.nlm.nih.gov/pubmed/35713537 http://dx.doi.org/10.4081/ejtm.2022.10645

Ejemplares similares

MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy
por: Pegoraro, Valentina, et al.
Publicado: (2019)

Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function
por: Missaglia, Sara, et al.
Publicado: (2019)

Metabolic lipid muscle disorders: biomarkers and treatment
por: Angelini, Corrado, et al.
Publicado: (2019)

Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients
por: Noguera, Nelida Inés, et al.
Publicado: (2023)

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
por: Missaglia, Sara, et al.
Publicado: (2017)

Lipolysis and lipophagy in lipid storage myopathies
por: Angelini, Corrado, et al.
Publicado: (2016)

Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
por: Missaglia, Sara, et al.
Publicado: (2018)

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
por: Pennisi, Elena Maria, et al.
Publicado: (2017)

Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients
por: Missaglia, Sara, et al.
Publicado: (2020)

Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome
por: Tavian, Daniela, et al.
Publicado: (2021)

A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy
por: Tavian, Daniela, et al.
Publicado: (2019)

Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy
por: Shi, Jiejing, et al.
Publicado: (2021)

Neutral lipid storage disease with myopathy in China: a large multicentric cohort study
por: Zhang, Wei, et al.
Publicado: (2019)

Editorial Commentary: Lipid Storage Myopathies
por: Khadilkar, Satish, et al.
Publicado: (2022)

Muscle MRI in neutral lipid storage disease (NLSD)
por: Garibaldi, Matteo, et al.
Publicado: (2017)

Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report
por: Landim, João Igor Dantas, et al.
Publicado: (2023)

Mutation Spectrum of Primary Lipid Storage Myopathies
por: Vengalil, Seena, et al.
Publicado: (2022)

Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy
por: Zheng, Shouyan, et al.
Publicado: (2018)

A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype
por: Elsayed, Solaf Mohamed, et al.
Publicado: (2022)

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents
por: Durdu, Murat, et al.
Publicado: (2018)

Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis
por: Yavuz, Arda, et al.
Publicado: (2020)

Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study
por: Han, Jingzhe, et al.
Publicado: (2019)

Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature
por: Pan, Xiaoli, et al.
Publicado: (2022)

Detection of FLAD1 mutations and lipid storage myopathy in a 5-year-old boy: a case report study
por: Hosseini, Seyed Ahmad, et al.
Publicado: (2023)

Late onset of neutral lipid storage disease due to a rare PNPLA2 mutation in a patient with myopathy and cardiomyopathy
por: Tian, Ye, et al.
Publicado: (2022)

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings
por: Eskiocak, Ali Haydar, et al.
Publicado: (2019)

Influence of 5-HTTLPR polymorphism on postpartum depressive and posttraumatic symptoms
por: Landoni, Marta, et al.
Publicado: (2021)

Persistent hypoglycemia associated with lipid storage myopathy in a paint foal
por: Pinn, Toby L., et al.
Publicado: (2018)

Two novel ETFDH mutations in a patient with lipid storage myopathy
por: Xu, Hong-Liang, et al.
Publicado: (2019)

The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China
por: HAN, Jingzhe, et al.
Publicado: (2022)

Lipid Myopathies
por: Pennisi, Elena Maria, et al.
Publicado: (2018)

Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association
por: Ramakrishnan, Subasree, et al.
Publicado: (2012)

Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations
por: Missaglia, Sara, et al.
Publicado: (2021)

Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation–Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency
por: Chandra, Sadanandavalli R., et al.
Publicado: (2018)

GYG1 gene mutations in a family with polyglucosan body myopathy
por: Fanin, Marina, et al.
Publicado: (2015)

FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation
por: Tavian, Daniela, et al.
Publicado: (2020)

Salivary and serum irisin in healthy adults before and after exercise
por: Missaglia, Sara, et al.
Publicado: (2023)

Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience
por: Gangfuss, Andrea, et al.
Publicado: (2021)

Undiagnosed myopathy before surgery and safe anaesthesia table
por: TREVISAN, CARLO P., et al.
Publicado: (2013)

Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy
por: Suzuki, Akira, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_t0vam1dc8eq75igvfb1coskdo7