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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Detalles Bibliográficos
Autores principales: Wang, Bing-lei, Lu, Fen-lei, Sun, Yu-chen, Wang, Hui-juan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9619211/
https://www.ncbi.nlm.nih.gov/pubmed/36324388
http://dx.doi.org/10.3389/fneur.2022.1011019

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9619211/
https://www.ncbi.nlm.nih.gov/pubmed/36324388
http://dx.doi.org/10.3389/fneur.2022.1011019

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