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Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of theARSA gene

โœ Scribed by Eng, Barry ;Heshka, Tim ;Tarnopolsky, Mark A. ;Nakamura, Lisa M. ;Nowaczyk, Ma?gorzata J.M. ;Waye, John S.


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
96 KB
Volume
128A
Category
Article
ISSN
0148-7299

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Metachromatic leukodystrophy: Identifica
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Metachromatic leukodystrophy (MLD), a lysosomal storage disease caused by the deficiency of arylsulfatase A (ASA), is inherited as an autosomal recessive trait, and its frequency is estimated to be 1 in 40,000 live births. Genomic DNA from 21 MLD patients (14 late-infantile and 7 juvenile cases) was