Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.

doi:10.1002/ana.410310305

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Article

Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.

Annals of neurology - 1 Mar 1992

Kappler J, von Figura K, Gieselmann V

Abstract excerpt

We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arg...

Topics

Adolescent
Adult
Age Factors
Alleles
Base Sequence
Cerebroside-Sulfatase
DNA Mutational Analysis
Gene Frequency
Genes
Heterozygote
Homozygote
Humans
Leukodystrophy, Metachromatic
Molecular Sequence Data
Mutagenesis, Site-Directed
Phenotype

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