Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis

Neutral lipid storage disease with myopathy (NLSDM) is characterized by the accumulation of cytoplasmic triglyceride droplets in various tissues; this very rare condition is caused by mutations in the PNPLA2 gene, susceptible to specific pharmacological management that decreases clinical progression...

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Autores:

García Acero, Mary Alexandra
Rojas Martínez, Jorge Armando
Millán Pérez, Sonia Patricia
Florez, Adriana A.

Tipo de recurso:

Article of journal

Fecha de publicación:

2018

Institución:

Pontificia Universidad Javeriana

Repositorio:

Repositorio Universidad Javeriana

Idioma:

OAI Identifier:

oai:repository.javeriana.edu.co:10554/60058

Acceso en línea:

https://www.jocn-journal.com/article/S0967-5868(18)30896-8/fulltext
http://hdl.handle.net/10554/60058
https://doi.org/10.1016/j.jocn.2018.10.046

Palabra clave:

Muscular Dystrophy
Neutral Lipid Storage
Dropped Hair
Myopathy
Bezafibrate
Adipose Triglyceride Lipase

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Atribución-NoComercial 4.0 Internacional