Cargando…
Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient
We present a patient who developed, after an early‐onset, a stable course of spastic paraplegia and ataxia for 4 decades and eventually succumbed to two episodes of postinfectious lactic acidosis. Diagnostic workup including muscle biopsy and postmortem analysis, oxymetric analysis, spectrophotometr...
| Autores principales: | , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9186134/ https://www.ncbi.nlm.nih.gov/pubmed/35482023 http://dx.doi.org/10.1002/acn3.51556 |