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...

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Bibliografiske detaljer
Main Authors: Haugarvoll, Kristoffer, Johansson, Stefan, Tzoulis, Charalampos, Haukanes, Bjørn Ivar, Bredrup, Cecilie, Neckelmann, Gesche, Boman, Helge, Knappskog, Per Morten, Bindoff, Laurence A
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2013
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3567975/
https://ncbi.nlm.nih.gov/pubmed/23286897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-1
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