A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.

doi:10.1136/jmg.31.9.672

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Article

A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.

Journal of medical genetics - 1 Sept 1994

Zlotogora J, Furman-Shaharabani Y, Harris A, Barth M L, von Figura K, Gieselmann V

Abstract excerpt

Metachromatic leucodystrophy is an autosomal recessive degenerative disease of the nervous system caused by the deficiency of the lysosomal enzyme arylsulphatase A (ARSA). We report here on the high incidence of late infantile MLD among Muslim Arabs originating from Jerusalem, most probably becau...

Topics

Alleles
Base Sequence
Haplotypes
Humans
Infant
Leukodystrophy, Metachromatic
Linkage Disequilibrium
Molecular Sequence Data
Point Mutation
Time Factors

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