Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

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

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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Detalhes 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
Formato:	artículo
Estado:	Versión publicada
Fecha de publicación:	2022
País:	España
Recursos:	Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:	DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:	oai:digital.csic.es:10261/306911
Acesso em linha:	http://hdl.handle.net/10261/306911 https://api.elsevier.com/content/abstract/scopus_id/85126223056
Access Level:	acceso abierto
Palavra-chave:	MRI Mitochondrial myopathy TK2

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spelling	Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosisDomínguez‐González, CristinaFernández-Torrón, RobertoMoore, UrsulaFuenmayor-Fernández de la Hoz, Carlos Pablo deVélez Gómez, BeatrizCabezas, Juan A.Alonso-Pérez, JorgeGonzález-Mera, LauraOlivé, MontseGarcía-García, JorgeMoris, GermánLeón Hernández, Juan CarlosMuelas, NuriaServián Morilla, E.Martín, Miguel ÁngelDíaz-Manera, JordiParadas, CarmenMRIMitochondrial myopathyTK2[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 mutations) to analyze the imaging pattern of fat replacement in lower limb muscles. We compared the identified pattern in patients with TK2d with the MRI pattern of other non-mitochondrial genetic myopathies that share similar clinical characteristics.[Results] We found a consistent lower limb muscle MRI pattern in patients with TK2d characterized by involvement of the gluteus maximus, gastrocnemius medialis, and sartorius muscles. The identified pattern in TK2 patients differs from the known radiological involvement of other resembling muscle dystrophies that share clinical features.[Conclusions] By analyzing the largest cohort of muscle MRI from patients with mitochondrial myopathies studied to date, we identified a characteristic and specific radiological pattern of muscle involvement in patients with TK2d that could be useful to speed up its diagnosis.This work was supported in part by the Instituto de Salud Carlos III and FEDER (PI18/01374 to MA.M and PMP15/00025 to CP, MO and MAM.). CD-G, CP, NM and MO are members of the European Reference Network for Neuromuscular Diseases (EURO-NMD) and MO is member of XUECs (Xarxes d'Unitats d'Expertesa Clínica en Malalties Minoritàries de Catalunya).Peer reviewedSpringerInstituto de Salud Carlos IIIEuropean CommissionEuropean Reference Network for rare Neuromuscular DiseasesXarxes d’Unitats d’Expertesa Clínica en Malalties MinoritàriesDomínguez-Gonzalez, Cristina [0000-0001-5151-988X]Díaz-Manera, Jordi [0000-0003-2941-7988]Paradas, Carmen [0000-0002-6917-2236]Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202320232022info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/306911https://api.elsevier.com/content/abstract/scopus_id/85126223056reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttps://doi.org/10.1007/s00415-021-10957-0Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3069112026-05-22T06:33:51Z
dc.title.none.fl_str_mv	Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
title	Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
spellingShingle	Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis Domínguez‐González, Cristina MRI Mitochondrial myopathy TK2
title_short	Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
title_full	Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
title_fullStr	Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
title_full_unstemmed	Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
title_sort	Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
dc.creator.none.fl_str_mv	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
author	Domínguez‐González, Cristina
author_facet	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
author_role	author
author2	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
author2_role	author author author author author author author author author author author author author author author author
dc.contributor.none.fl_str_mv	Instituto de Salud Carlos III European Commission European Reference Network for rare Neuromuscular Diseases Xarxes d’Unitats d’Expertesa Clínica en Malalties Minoritàries Domínguez-Gonzalez, Cristina [0000-0001-5151-988X] Díaz-Manera, Jordi [0000-0003-2941-7988] Paradas, Carmen [0000-0002-6917-2236] Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv	MRI Mitochondrial myopathy TK2
topic	MRI Mitochondrial myopathy TK2
description	[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.
publishDate	2022
dc.date.none.fl_str_mv	2022 2023 2023
dc.type.none.fl_str_mv	info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501 Publisher's version info:eu-repo/semantics/publishedVersion
format	article
status_str	publishedVersion
dc.identifier.none.fl_str_mv	http://hdl.handle.net/10261/306911 https://api.elsevier.com/content/abstract/scopus_id/85126223056
url	http://hdl.handle.net/10261/306911 https://api.elsevier.com/content/abstract/scopus_id/85126223056
dc.language.none.fl_str_mv	Inglés
language_invalid_str_mv	Inglés
dc.relation.none.fl_str_mv	https://doi.org/10.1007/s00415-021-10957-0 Sí
dc.rights.none.fl_str_mv	info:eu-repo/semantics/openAccess
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	application/pdf
dc.publisher.none.fl_str_mv	Springer
publisher.none.fl_str_mv	Springer
dc.source.none.fl_str_mv	reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str	Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str	DIGITAL.CSIC. Repositorio Institucional del CSIC
collection	DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score	15,812455

Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

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