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
Rights
License
Atribución-NoComercial 4.0 Internacional
id JAVERIANA2_776a185aadae0854b8a162c8aa9bd5c4
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network_name_str Repositorio Universidad Javeriana
repository_id_str
spelling Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2García Acero, Mary AlexandraRojas Martínez, Jorge ArmandoMillán Pérez, Sonia PatriciaFlorez, Adriana A.Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaPontificia Universidad Javeriana. Facultad de Medicina. Departamento de Neurociencias. NeurologíaPontificia Universidad Javeriana. Facultad de Medicina. Hospital Universitario San IgnacioRojas Martinez, Jorge ArmandoMillan Perez, Sonia Patricia2022-05-31T17:18:22Z2022-05-31T17:18:22Z2018-10-20https://www.jocn-journal.com/article/S0967-5868(18)30896-8/fulltext0967-5868 / 1532-2653 (Electrónico)http://hdl.handle.net/10554/60058https://doi.org/10.1016/j.jocn.2018.10.046instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coNeutral 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.Q3Q2https://orcid.org/0000-0002-2467-4697Revista Internacional - IndexadaA2SIPDFapplication/pdfMuscular DystrophyNeutral Lipid StorageDropped HairMyopathyBezafibrateAdipose Triglyceride LipaseNeutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosisArtículo de revistahttp://purl.org/coar/resource_type/c_6501207209Journal of Clinical Neuroscience58ORIGINALa2777.pdfapplication/pdf785044http://repository.javeriana.edu.co/bitstream/10554/60058/1/a2777.pdf38779d9fb24b333337440568d79e902bMD51open accessTHUMBNAILa2777.pdf.jpga2777.pdf.jpgIM Thumbnailimage/jpeg10279http://repository.javeriana.edu.co/bitstream/10554/60058/2/a2777.pdf.jpgf7cdac1bf57ea3ec736646002ccbd5d6MD52open access10554/60058oai:repository.javeriana.edu.co:10554/600582022-12-06 10:53:44.415Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.co
dc.title.none.fl_str_mv Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis
title Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis
spellingShingle Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis
Muscular Dystrophy
Neutral Lipid Storage
Dropped Hair
Myopathy
Bezafibrate
Adipose Triglyceride Lipase
title_short Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis
title_full Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis
title_fullStr Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis
title_full_unstemmed Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis
title_sort Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis
dc.creator.fl_str_mv García Acero, Mary Alexandra
Rojas Martínez, Jorge Armando
Millán Pérez, Sonia Patricia
Florez, Adriana A.
dc.contributor.author.none.fl_str_mv García Acero, Mary Alexandra
Rojas Martínez, Jorge Armando
Millán Pérez, Sonia Patricia
Florez, Adriana A.
dc.contributor.corporatename.none.fl_str_mv Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Neurociencias. Neurología
dc.contributor.corporatename.spa.fl_str_mv Pontificia Universidad Javeriana. Facultad de Medicina. Hospital Universitario San Ignacio
dc.contributor.javerianateacher.none.fl_str_mv Rojas Martinez, Jorge Armando
Millan Perez, Sonia Patricia
dc.subject.spa.fl_str_mv Muscular Dystrophy
Neutral Lipid Storage
Dropped Hair
Myopathy
Bezafibrate
Adipose Triglyceride Lipase
topic Muscular Dystrophy
Neutral Lipid Storage
Dropped Hair
Myopathy
Bezafibrate
Adipose Triglyceride Lipase
description 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.
publishDate 2018
dc.date.created.none.fl_str_mv 2018-10-20
dc.date.accessioned.none.fl_str_mv 2022-05-31T17:18:22Z
dc.date.available.none.fl_str_mv 2022-05-31T17:18:22Z
dc.type.local.spa.fl_str_mv Artículo de revista
dc.type.coar.spa.fl_str_mv http://purl.org/coar/resource_type/c_6501
format http://purl.org/coar/resource_type/c_6501
dc.identifier.spa.fl_str_mv https://www.jocn-journal.com/article/S0967-5868(18)30896-8/fulltext
dc.identifier.issn.spa.fl_str_mv 0967-5868 / 1532-2653 (Electrónico)
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10554/60058
dc.identifier.doi.spa.fl_str_mv https://doi.org/10.1016/j.jocn.2018.10.046
dc.identifier.instname.spa.fl_str_mv instname:Pontificia Universidad Javeriana
dc.identifier.reponame.spa.fl_str_mv reponame:Repositorio Institucional - Pontificia Universidad Javeriana
dc.identifier.repourl.spa.fl_str_mv repourl:https://repository.javeriana.edu.co
url 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
identifier_str_mv 0967-5868 / 1532-2653 (Electrónico)
instname:Pontificia Universidad Javeriana
reponame:Repositorio Institucional - Pontificia Universidad Javeriana
repourl:https://repository.javeriana.edu.co
dc.relation.citationstartpage.spa.fl_str_mv 207
dc.relation.citationendpage.spa.fl_str_mv 209
dc.relation.ispartofjournal.spa.fl_str_mv Journal of Clinical Neuroscience
dc.relation.citationvolume.spa.fl_str_mv 58
dc.rights.licence.*.fl_str_mv Atribución-NoComercial 4.0 Internacional
dc.rights.uri.*.fl_str_mv http://creativecommons.org/licenses/by-nc/4.0/
dc.rights.coar.spa.fl_str_mv http://purl.org/coar/access_right/c_abf2
rights_invalid_str_mv Atribución-NoComercial 4.0 Internacional
http://creativecommons.org/licenses/by-nc/4.0/
http://purl.org/coar/access_right/c_abf2
dc.format.spa.fl_str_mv PDF
dc.format.mimetype.spa.fl_str_mv application/pdf
institution Pontificia Universidad Javeriana
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repository.mail.fl_str_mv repositorio@javeriana.edu.co
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