Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.

ABSTRACT:

Background and objective

TK2 deficiency (TK2d) is a rare mitochondrial disorder that manifests predominantly as a progressive myopathy with a broad spectrum of severity and age of onset. The rate of progression is variable, and the prognosis is poor due to early and severe respiratory involvement. Early and accurate diagnosis is particularly important since a specific treatment is under development. This study aims to evaluate the diagnostic value of lower limb muscle MRI in adult patients with TK2d.

Methods

We studied a cohort of 45 genetically confirmed patients with mitochondrial myopathy (16 with mutations in TK2, 9 with mutations in other nuclear genes involved in mitochondrial DNA [mtDNA] synthesis or maintenance, 10 with single mtDNA deletions, and 10 with point mtDNA

SUBMITTER: Dominguez-Gonzalez C 

PROVIDER: S-EPMC9217784 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature