MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

BACKGROUND: Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two siblings with a complex, adult-onset phenotype; including peripheral neuropath...

Descripción completa

Detalles Bibliográficos
Autores principales: Haugarvoll, Kristoffer, Johansson, Stefan, Tzoulis, Charalampos, Haukanes, Bjørn Ivar, Bredrup, Cecilie, Neckelmann, Gesche, Boman, Helge, Knappskog, Per Morten, Bindoff, Laurence A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567975/
https://www.ncbi.nlm.nih.gov/pubmed/23286897
http://dx.doi.org/10.1186/1750-1172-8-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567975/
https://www.ncbi.nlm.nih.gov/pubmed/23286897
http://dx.doi.org/10.1186/1750-1172-8-1

Ejemplares similares