The first genetically confirmed Japanese patient with mucolipidosis type IV

Mucolipidosis type IV (MLIV) is a rare neurodegenerative disorder characterized by severe psychomotor delay and visual impairment. We report the brain pathology in the first Japanese patient of MLIV with a novel homozygous missense mutation in MCOLN1. We detected the localized increase in p62‐reacti...

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Detalles Bibliográficos
Autores principales: Saijo, Harumi, Hayashi, Masaharu, Ezoe, Takanori, Ohba, Chihiro, Saitsu, Hirotomo, Kurata, Kiyoko, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856247/
https://www.ncbi.nlm.nih.gov/pubmed/27190617
http://dx.doi.org/10.1002/ccr3.540

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856247/
https://www.ncbi.nlm.nih.gov/pubmed/27190617
http://dx.doi.org/10.1002/ccr3.540

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