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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...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: Haugarvoll Kristoffer, Johansson Stefan, Tzoulis Charalampos, Haukanes Bjørn Ivar, Bredrup Cecilie, Neckelmann Gesche, Boman Helge, Knappskog Per Morten, Bindoff Laurence A
Hōputu: Artigo
Reo:Inglês
I whakaputaina: BMC 2013-01-01
Rangatū:Orphanet Journal of Rare Diseases
Ngā marau:
<it>AMACR</it> gene
Seizures
Next generation sequencing
Ataxia
Peroxisomal disorders
Metabolic disorders
Tremor
Peripheral neuropathy
Pigmentary retinopathy
Urunga tuihono:http://www.ojrd.com/content/8/1/1
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