ArticleHuman molecular genetics2021

Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.

Ramesh K Narayanan et al.PubMed ↗Full text ↗Publisher ↗

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