Article
Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity.
Human mutation - 1 Jan 1999
Berger J, Gmach M, Mayr U, Molzer B, Bernheimer H
Abstract excerpt
In a family with three siblings, one developed classical late infantile metachromatic leukodystrophy (MLD), fatal at age 5 years, with deficient arylsulfatase A (ARSA) activity and increased galactosylsulfatide (GS) excretion. The two other siblings, apparently healthy at 12(1/2) and 15 years, re...
Topics
- Adolescent
- Alleles
- Cerebroside-Sulfatase
- Child
- Child, Preschool
- Fatal Outcome
- Female
- Heterozygote
- Humans
- Leukodystrophy, Metachromatic
- Male
- Pedigree
- Phenotype
- Point Mutation
- Sequence Analysis, DNA