Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

[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....

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Bibliographic Details
Authors: Domínguez‐González, Cristina, Fernández-Torrón, Roberto, Moore, Ursula, Fuenmayor-Fernández de la Hoz, Carlos Pablo de, Vélez Gómez, Beatriz, Cabezas, Juan A., Alonso-Pérez, Jorge, González-Mera, Laura, Olivé, Montse, García-García, Jorge, Moris, Germán, León Hernández, Juan Carlos, Muelas, Nuria, Servián Morilla, E., Martín, Miguel Ángel, Díaz-Manera, Jordi, Paradas, Carmen
Format: article
Status:Published version
Publication Date:2022
Country:España
Institution:Consejo Superior de Investigaciones Científicas (CSIC)
Repository:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/306911
Online Access:http://hdl.handle.net/10261/306911
https://api.elsevier.com/content/abstract/scopus_id/85126223056
Access Level:Open access
Keyword:MRI
Mitochondrial myopathy
TK2
Description
Summary:[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.

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