Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations
To the Editor:Mutations in the mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) have been recently found to lead to chronic progressive leukodystrophy or infantile cardiomyopathy.Up to date,there have been 15 patients reported with chronic progressive leukodystrophy.Notably,all the female patient...
Gespeichert in:
Veröffentlicht in: | Chinese medical journal 2017-12, Vol.130 (24), p.3021-3022 |
---|---|
Hauptverfasser: | , , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
Zusammenfassung: | To the Editor:Mutations in the mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) have been recently found to lead to chronic progressive leukodystrophy or infantile cardiomyopathy.Up to date,there have been 15 patients reported with chronic progressive leukodystrophy.Notably,all the female patients (9/15) present with ovarian failure,described as "ovarioleukodystrophy."[1-4] Herein,we report a female patient with progressive adult-onset leukodystrophy without ovarian failure due to compound heterozygous mutations in AARS2. |
---|---|
ISSN: | 0366-6999 2542-5641 |
DOI: | 10.4103/0366-6999.220300 |