Katharina Stoeck and colleagues describe a strategic diagnostic workup including genetic testing on patient with adult-onset metachromatic leukodystrophy. They identified a compound heterozygous mutation in the ARSA gene: c.542T>G (exon 3) and the novel mutation c.1013T>C (exon 6).
Stoeck, Katharina et al. Journal of Alzheimer's disease: JAD.
"I recommend Alamut to all of my colleagues and friends in genomics!"
EDGARDO R. PARRILLA, MD
Duke University, Durham, USA