Yüklüyor......
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a novel mitochondrial disease caused by mutations in EARS2, which encodes the mitochondrial glutamyl-tRNA synthetase (mtGluRS). A distinctive brain MRI pattern is the hallmark of the disease. A 6-year-old boy pres...
Kaydedildi:
| Yayımlandı: | JIMD Rep |
|---|---|
| Asıl Yazarlar: | , , , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Springer Berlin Heidelberg
2015
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4484897/ https://ncbi.nlm.nih.gov/pubmed/25854774 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_434 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|