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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Data
2018-10-20Autore
García Acero, Mary AlexandraRojas Martínez, Jorge Armando
Millán Pérez, Sonia Patricia
Florez, Adriana A.
Autore/i aziendale
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
Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Neurociencias. Neurología
Tipo
Artículo de revista
ISSN
0967-5868 / 1532-2653 (Electrónico)
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Sommario
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. We
describe the clinical and biochemical characteristics of a Colombian patient with a previously unreported homozygous mutation in the PNPLA2 gene with a difficult to manage disease, who was diagnosed late by advances in molecular techniques.
Parole chiave
Muscular DystrophyNeutral Lipid Storage
Dropped Hair
Myopathy
Bezafibrate
Adipose Triglyceride Lipase
Link alla risorsa
https://www.jocn-journal.com/article/S0967-5868(18)30896-8/fulltextEditoriale
Journal of Clinical Neuroscience; Volumen 58 , Páginas 207 - 209 (2018)
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