Electrocardiogram in Friedreich's ataxia: A short‐term surrogate endpoint for treatment efficacy

Friedreich's ataxia is a rare degenerative neuromuscular disorder, caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, with a broad clinical phenotype characterized by progressive gait and limb ataxia, dysarthria, and loss of lower limb reflexes; cardiac involvement...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Ann Noninvasive Electrocardiol
Päätekijät: Mastroianno, Sandra, Germano, Michele, Maggio, Angela, Massaro, Raimondo, Potenza, Domenico Rosario, Russo, Aldo, Carella, Massimo, Di Stolfo, Giuseppe
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2020
Aiheet:
Case Reports
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC8293611/
https://ncbi.nlm.nih.gov/pubmed/33151022
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/anec.12813
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