KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

Abstract Background KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in KARS have been reported to date. The associated clinical phenotype is...

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Bibliographic Details
Main Authors: Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi
Format: Article
Language:English
Published: BMC 2018-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Mitochondrial disease
KARS
Leukoencephalopathy
Calcifications
Online Access:http://link.springer.com/article/10.1186/s13023-018-0788-4

Internet

http://link.springer.com/article/10.1186/s13023-018-0788-4

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