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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

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