Article
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
Orphanet journal of rare diseases - 4 Apr 2018
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
Abstract excerpt
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 heterogeneous ranging from early onset encephalopathy to isolated peripheral neuropathy or nonsyndromic hearing impairment....
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