Clinical and Genetic Analysis of Patients With TK2 Deficiency.

Francisco C Ceballos Pablo Serrano-Lorenzo Laura Bermejo-GuerreroAlberto BlázquezJuan F Quesada-EspinosaJorge AmigoPablo MinguezCarmen AyusoElena García-ArumíNuria MuelasTeresa JaijoAndres NascimentoBeatriz Galán-RodriguezCarmen ParadasJoaquín ArenasAngel Carracedo Ramon Ramon Miguel Angel Martin Cristina Domínguez-Gonzáleznull null

Published in: Neurology. Genetics (2024)

The higher frequency of TK2d in Spain can be partially attributed to the increased prevalence of 2 variants and consanguinity. Notably, in 60% of the cohort, the disease was late-onset, emphasizing the potential underdiagnosis of this subgroup of patients in other regions. Raising awareness of this potentially treatable disorder is of utmost importance because early interventions can significantly affect the quality of life and survival of affected individuals.

Keyphrases

late onset
end stage renal disease
early onset
ejection fraction
chronic kidney disease
newly diagnosed
peritoneal dialysis
prognostic factors
randomized controlled trial
copy number
risk assessment
human health
phase iii