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

<p>Abstract</p> <p>Background</p> <p>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; inclu...

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Bibliografski detalji

Glavni autori:	Haugarvoll Kristoffer, Johansson Stefan, Tzoulis Charalampos, Haukanes Bjørn Ivar, Bredrup Cecilie, Neckelmann Gesche, Boman Helge, Knappskog Per Morten, Bindoff Laurence A
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2013-01-01
Serija:	Orphanet Journal of Rare Diseases
Teme:	<it>AMACR</it> gene Seizures Next generation sequencing Ataxia Peroxisomal disorders Metabolic disorders Tremor Peripheral neuropathy Pigmentary retinopathy
Online pristup:	http://www.ojrd.com/content/8/1/1
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