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Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD)

Imen Dorboz 1, 2 Eléonore Eymard-Pierre 3, 1 Rym Kefi 4 Sonia Abdelhak 4 Najoua Miladi 2 Odile Boespflug-Tanguy 1, 3 Tunisian Leukodystrophy Study Grp
1 GReD - Génétique, Reproduction et Développement
2 Child Neurological Diseases Unit [Tunis]
3 Cytogénétique Médicale
4 Institut Pasteur de Tunis
Abstract : Metachromatic leukodystrophy (WILD) 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 MILD in Tunisian population. Two Tunisian patients with late infantile MILD were studied. Both patients were homozygous for a new missense mutation that causes a substitution of Trp in Gly p.W124G. This is the first mutation of ARSA gene described in Tunisian population. (C) 2009 Elsevier B.V. All rights reserved.
Keywords : Metachromatic leukodystrophy Arylsulfatase A ARSA Cerebroside sulfate sulfatase Lysosome Mutation analysis
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https://hal-riip.archives-ouvertes.fr/pasteur-01375329
Contributor : Institut Pasteur Tunis <>
Submitted on : Monday, January 9, 2017 - 4:01:44 PM
Last modification on : Tuesday, April 20, 2021 - 11:22:02 AM

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Imen Dorboz, Eléonore Eymard-Pierre, Rym Kefi, Sonia Abdelhak, Najoua Miladi, et al.. Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD). Journal of the Neurological Sciences, Elsevier, 2009, 287 (1-2), pp.278-280. ⟨10.1016/j.jns.2009.07.023⟩. ⟨pasteur-01375329⟩

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