Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy
Metachromatic Leukodystrophy (MLD) is a rare autosomal recessive disease, which is caused by mutations in the arylsulfatase A (ARSA) gene. The ARSA gene is located on chromosome 22q13, containing eight exons. According to the age of onset, MLD can be divided into late infantile type, juvenile type,...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2022-10-01
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| Colecção: | Frontiers in Neurology |
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| Acesso em linha: | https://www.frontiersin.org/articles/10.3389/fneur.2022.1011019/full |
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