A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family
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Metachromatic Leukodystrophy (MLD) is a rare autosomal recessive lysosomal disorder caused by ARSA gene variants, affecting central and peripheral nervous systems. While ARSA variants are reported globally, data from sub-Saharan Africa (SSA) are limited. We re... ...
