Article
Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).
Journal of the neurological sciences - 15 Dec 2009
Dorboz Imen, Eymard-Pierre Eleonore, Kefi Rym, Abdelhak Sonia, Miladi Najoua, Boespflug-Tanguy Odile
Abstract excerpt
Metachromatic leukodystrophy (MLD) is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase A (ARSA). The aim of the present study was to identify the molecular basis of MLD in Tunisian population. Two Tunisian patients with late infantile MLD were studied. Both patients were homozygous for a new missense mutation that causes a substitution of Trp in Gly p.W124G....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.