Article
A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
Annals of neurology - 1 Oct 2020
Fay Alexander, Garcia Yngo, Margeta Marta, Maharjan Sunita, Jürgensen Claudia, Briceño Jose, Garcia Mariaelena, Yin Sitao, Bassaganyas Laia, McMahon Thomas, Hou Ya-Ming, Fu Ying-Hui, Ptáček Louis J
Abstract excerpt
OBJECTIVE: The objective of this study was to identify the genetic cause for progressive peripheral nerve disease in a Venezuelan family. Despite the growing list of genes associated with Charcot-Marie-Tooth disease, many patients with axonal forms lack a genetic diagnosis. METHODS: A pedigree was constructed, based on family clinical data. Next-generation sequencing of mitochondrial DNA (mtDNA) was performed for...
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