A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-11-09

AUTHORS

Keiko Shimojima, Takafumi Higashiguchi, Kanako Kishimoto, Satoko Miyatake, Noriko Miyake, Jun-Ichi Takanashi, Naomichi Matsumoto, Toshiyuki Yamamoto

ABSTRACT

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 (splicing error). This provides further evidence that most patients with LBSL show compound heterozygous mutations in DARS2 in association with a common splicing mutation in the splicing acceptor site of intron 2. More... »

PAGES

17051

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/hgv.2017.51

DOI

http://dx.doi.org/10.1038/hgv.2017.51

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1092594055

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29138691


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