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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...
שמור ב:
| הוצא לאור ב: | Mitochondrion |
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| Main Authors: | , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Elsevier Science
2019
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| נושאים: | |
| גישה מקוונת: | 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 |
| תגים: |
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