Patient-specific variants of NFU1/NFU-1 disrupt cholinergic signaling in a model of multiple mitochondrial dysfunctions syndrome 1

Neuromuscular dysfunction is a common feature of mitochondrial diseases and frequently presents as ataxia, spasticity and/or dystonia, all of which can severely impact individuals with mitochondrial diseases. Dystonia is one of the most common symptoms of multiple mitochondrial dysfunctions syndrome...

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Detalles Bibliográficos
Autores principales: Kropp, Peter A., Rogers, Philippa, Kelly, Sydney E., McWhirter, Rebecca, Goff, Willow D., Levitan, Ian M., Miller, David M., Golden, Andy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9922734/
https://www.ncbi.nlm.nih.gov/pubmed/36645076
http://dx.doi.org/10.1242/dmm.049594

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9922734/
https://www.ncbi.nlm.nih.gov/pubmed/36645076
http://dx.doi.org/10.1242/dmm.049594

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