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

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 heterog...

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Bibliografske podrobnosti
izdano v:Orphanet J Rare Dis
Main Authors: Ardissone, Anna, Tonduti, Davide, Legati, Andrea, Lamantea, Eleonora, Barone, Rita, Dorboz, Imen, Boespflug-Tanguy, Odile, Nebbia, Gabriella, Maggioni, Marco, Garavaglia, Barbara, Moroni, Isabella, Farina, Laura, Pichiecchio, Anna, Orcesi, Simona, Chiapparini, Luisa, Ghezzi, Daniele
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2018
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5883414/
https://ncbi.nlm.nih.gov/pubmed/29615062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0788-4
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