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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Detalles Bibliográficos
Autores: 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
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/306911
Acceso en línea:http://hdl.handle.net/10261/306911
https://api.elsevier.com/content/abstract/scopus_id/85126223056
Access Level:acceso abierto
Palabra clave:MRI
Mitochondrial myopathy
TK2
Descripción
Sumario:[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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