Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis

We detected a novel CLN1 gene mutation (p.Arg151X, heterogenous) in a 12-year-old boy. Low level of palmitoyl protein thioesterase and granular inclusion pattern in lymphocytes were also consistent with infantile Neuronal ceroid lipofuscinosis (INCL). However, the clinical phenotype was that of atyp...

Descripción completa

Detalles Bibliográficos
Autores principales: Khan, Arif, Chieng, Kwong S., Baheerathan, Aravindhan, Hussain, Nahin, Gosalakkal, Jayprakash
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3680897/
https://www.ncbi.nlm.nih.gov/pubmed/23772246
http://dx.doi.org/10.4103/1817-1745.111424

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3680897/
https://www.ncbi.nlm.nih.gov/pubmed/23772246
http://dx.doi.org/10.4103/1817-1745.111424

Ejemplares similares