Case report: ‘AARS2 leukodystrophy’

Case report: ‘AARS2 leukodystrophy’

Background: Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults. The disease is considered ultra-rare with only 39 cases of AARS2-...

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Bibliographic Details
Main Authors: Tobias Melton Axelsen, Tzvetelina Lubenova Vammen, Mads Bak, Nelsan Pourhadi, Christian Midtgaard Stenør, Sabine Grønborg
Format: Article
Language:English
Published: Elsevier 2021-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
AARS2
Adult onset leukodystrophies
Limb-girdle muscular dystrophy
Whole genome sequencing
Case report
Inborn errors of metabolism
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000768

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http://www.sciencedirect.com/science/article/pii/S2214426921000768

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