New Mutation of Pelizaeus­-Merzbacher-Like Disease; A Report from Iran

Pelizaeus­-Merzbacher-like disease (PMLD) is a hypomyelinating leukoencephalopathy disorder with a genetically heterogeneous pattern. Mutations in the GJA12/GJC2 gene cause one form of autosomal recessive Pelizaeus­-Merzbacher-like disease. Here, we report a new mutation in a ­10-month-old girl with...

Descripción completa

Detalles Bibliográficos
Autores principales: Karimzadeh, Parvaneh, Ahmadabadi, Farzad, Aryani, Omid, Houshmand, Massoud, Khatami, Alireza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kowsar 2014
Materias:
Pediatric Imaging
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090646/
https://www.ncbi.nlm.nih.gov/pubmed/25035705
http://dx.doi.org/10.5812/iranjradiol.6913

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090646/
https://www.ncbi.nlm.nih.gov/pubmed/25035705
http://dx.doi.org/10.5812/iranjradiol.6913

Ejemplares similares