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

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Date
2018Authors
García Acero, Mary AlexandraRojas Martínez, Jorge Armando
Millán Pérez, Sonia Patricia
Florez, Adriana A.
Corporate Author(s)
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
Pontificia Universidad Javeriana. Facultad de Medicina. Hospital Universitario San Ignacio
Type
Artículos
ISSN
0967-5868
COAR
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Resumen
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 m
Keywords
Muscular DystrophyNeutral Lipid Storage
Dropped Hair
Myopathy
Bezafibrate
Adipose Triglyceride Lipase
Link to the resource
https://www.jocn-journal.com/article/S0967-5868(18)30896-8/fulltextSource
Journal of Clinical Neuroscience; Volumen 58 , Páginas 207 - 209 (2018)
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