Φορτώνει......
A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes
Mitochondrial DNA variants in the MT-TM (mt-tRNA(Met)) gene are rare, typically associated with myopathic phenotypes. We identified a novel MT-TM variant resulting in prolonged seizures with childhood-onset myopathy, retinopathy, short stature and elevated CSF lactate associated with bilateral basal...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mitochondrion |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Elsevier Science
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6617384/ https://ncbi.nlm.nih.gov/pubmed/31022467 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mito.2019.04.007 |
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