A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy

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 encode...

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Detalles Bibliográficos
Autores principales: Tavian, Daniela, Maggi, Lorenzo, Mora, Marina, Morandi, Lucia, Bragato, Cinzia, Missaglia, Sara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2019
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7859421/
https://www.ncbi.nlm.nih.gov/pubmed/33569515
http://dx.doi.org/10.1016/j.gendis.2019.07.006

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