A Mitochondrial tRNA Mutation Causes Axonal Charcot-Marie-Tooth Disease in a Large Family from the Venezuelan Andes (2779)

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dc.contributor.authorAlexander Fay
dc.contributor.authorYngo Garcia
dc.contributor.authorMarta Margeta
dc.contributor.authorYa‐Ming Hou
dc.contributor.authorSunita Maharjan
dc.contributor.authorTom McMahon
dc.contributor.authorLaia Bassaganyas
dc.contributor.authorYing‐Hui Fu
dc.contributor.authorLouis J. Ptáček
dc.coverage.spatialBolivia
dc.date.accessioned2026-03-22T18:37:10Z
dc.date.available2026-03-22T18:37:10Z
dc.date.issued2020
dc.description.abstractTo identify the genetic cause for a progressive peripheral nerve disease in a large Venezuelan family.
dc.identifier.doi10.1212/wnl.94.15_supplement.2779
dc.identifier.urihttps://doi.org/10.1212/wnl.94.15_supplement.2779
dc.identifier.urihttps://andeanlibrary.org/handle/123456789/71187
dc.language.isoen
dc.publisherLippincott Williams & Wilkins
dc.relation.ispartofNeurology
dc.sourceUniversitetshospitalernes Center for Sundhedsfaglig Forskning
dc.subjectThursday
dc.subjectMutation
dc.subjectMitochondrial DNA
dc.subjectMedicine
dc.subjectGenetics
dc.subjectBiology
dc.titleA Mitochondrial tRNA Mutation Causes Axonal Charcot-Marie-Tooth Disease in a Large Family from the Venezuelan Andes (2779)
dc.typearticle

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