Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum

Two affected and one unaffected siblings from a French-Canadian family were evaluated in our neurogenetic clinic. The oldest brother had intentional and postural hand tremor while his youngest sister presented mild ataxia, a similar hand tremor and global developmental delay. Brain MRIs of the two a...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Cerebellum Ataxias
Autores principales: Noreau, Anne, Beauchemin, Philippe, Dionne-Laporte, Alexandre, Dion, Patrick A, Rouleau, Guy A, Dupré, Nicolas
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4552392/
https://ncbi.nlm.nih.gov/pubmed/26331032
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2053-8871-1-8
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares