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...

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Detalles Bibliográficos
Autores principales: Gschwind, Markus, Garcia Segarra, Nuria, Schaller, André, Bolognini, Ramona, Nuoffer, Jean‐Marc, Hourez, Raphael, Deprez, Manuel, Lhermitte, Benoit, Maeder, Philippe, Tran, Christel, Kuntzer, Thierry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Study
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

Internet

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

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