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A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation
The mitochondrial aspartyl-tRNA synthetase 2 gene (DARS2) is responsible for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). A Japanese patient with LBSL showed compound heterozygous DARS2 mutations c.358_359delinsTC (p.Gly120Ser) and c.228-15C>G (spli...
Autores principales: | Shimojima, Keiko, Higashiguchi, Takafumi, Kishimoto, Kanako, Miyatake, Satoko, Miyake, Noriko, Takanashi, Jun-ichi, Matsumoto, Naomichi, Yamamoto, Toshiyuki |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678206/ https://www.ncbi.nlm.nih.gov/pubmed/29138691 http://dx.doi.org/10.1038/hgv.2017.51 |
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