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.
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