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....
| Autores: | , , , , , , , , , , , , , , , , |
|---|---|
| Tipo de documento: | artigo |
| Data de publicação: | 2022 |
| País: | España |
| Recursos: | Universitat Autònoma de Barcelona |
| Repositório: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglês |
| OAI Identifier: | oai:ddd.uab.cat:280854 |
| Acesso em linha: | https://ddd.uab.cat/record/280854 https://dx.doi.org/urn:doi:10.1007/s00415-021-10957-0 |
| Access Level: | Acceso aberto |
| Palavra-chave: | TK2 Mitochondrial myopathy MRI |
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oai:ddd.uab.cat:280854 |
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Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosisDomínguez-González, Cristina|||0000-0001-5151-988XFernández-Torrón, RobertoMoore, Ursula|||0000-0002-0643-5596de Fuenmayor-Fernández de la Hoz, Carlos PabloVélez-Gómez, Beatriz|||0000-0001-5796-5872Cabezas, Juan AntonioAlonso Pérez, Jorge|||0000-0001-8866-5186González Mera, LauraOlivé i Plana, Montserrat|||0000-0001-5727-0165García-García, JorgeMorís, Germán|||0000-0001-7608-2194León Hernández, Juan CarlosMuelas, Nuria|||0000-0002-2349-7481Servian-Morilla, EmiliaMartín, Miguel A.|||0000-0003-4741-772XDiaz-Manera, Jordi|||0000-0003-2941-7988Paradas, Carmen|||0000-0002-6917-2236TK2Mitochondrial myopathyMRIBackground 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.Universitat Autònoma de Barcelona 22022-01-0120222022-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/280854https://dx.doi.org/urn:doi:10.1007/s00415-021-10957-0reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengInstituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI18/01374Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PMP15/00025open accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2808542026-06-06T12:50:31Z |
| 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|||0000-0001-5151-988X TK2 Mitochondrial myopathy MRI |
| 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|||0000-0001-5151-988X Fernández-Torrón, Roberto Moore, Ursula|||0000-0002-0643-5596 de Fuenmayor-Fernández de la Hoz, Carlos Pablo Vélez-Gómez, Beatriz|||0000-0001-5796-5872 Cabezas, Juan Antonio Alonso Pérez, Jorge|||0000-0001-8866-5186 González Mera, Laura Olivé i Plana, Montserrat|||0000-0001-5727-0165 García-García, Jorge Morís, Germán|||0000-0001-7608-2194 León Hernández, Juan Carlos Muelas, Nuria|||0000-0002-2349-7481 Servian-Morilla, Emilia Martín, Miguel A.|||0000-0003-4741-772X Diaz-Manera, Jordi|||0000-0003-2941-7988 Paradas, Carmen|||0000-0002-6917-2236 |
| author |
Domínguez-González, Cristina|||0000-0001-5151-988X |
| author_facet |
Domínguez-González, Cristina|||0000-0001-5151-988X Fernández-Torrón, Roberto Moore, Ursula|||0000-0002-0643-5596 de Fuenmayor-Fernández de la Hoz, Carlos Pablo Vélez-Gómez, Beatriz|||0000-0001-5796-5872 Cabezas, Juan Antonio Alonso Pérez, Jorge|||0000-0001-8866-5186 González Mera, Laura Olivé i Plana, Montserrat|||0000-0001-5727-0165 García-García, Jorge Morís, Germán|||0000-0001-7608-2194 León Hernández, Juan Carlos Muelas, Nuria|||0000-0002-2349-7481 Servian-Morilla, Emilia Martín, Miguel A.|||0000-0003-4741-772X Diaz-Manera, Jordi|||0000-0003-2941-7988 Paradas, Carmen|||0000-0002-6917-2236 |
| author_role |
author |
| author2 |
Fernández-Torrón, Roberto Moore, Ursula|||0000-0002-0643-5596 de Fuenmayor-Fernández de la Hoz, Carlos Pablo Vélez-Gómez, Beatriz|||0000-0001-5796-5872 Cabezas, Juan Antonio Alonso Pérez, Jorge|||0000-0001-8866-5186 González Mera, Laura Olivé i Plana, Montserrat|||0000-0001-5727-0165 García-García, Jorge Morís, Germán|||0000-0001-7608-2194 León Hernández, Juan Carlos Muelas, Nuria|||0000-0002-2349-7481 Servian-Morilla, Emilia Martín, Miguel A.|||0000-0003-4741-772X Diaz-Manera, Jordi|||0000-0003-2941-7988 Paradas, Carmen|||0000-0002-6917-2236 |
| author2_role |
author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Universitat Autònoma de Barcelona |
| dc.subject.none.fl_str_mv |
TK2 Mitochondrial myopathy MRI |
| topic |
TK2 Mitochondrial myopathy MRI |
| 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. 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. |
| publishDate |
2022 |
| dc.date.none.fl_str_mv |
2 2022-01-01 2022 2022-01-01 |
| dc.type.none.fl_str_mv |
Article http://purl.org/coar/resource_type/c_6501 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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info:eu-repo/semantics/article |
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article |
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https://ddd.uab.cat/record/280854 https://dx.doi.org/urn:doi:10.1007/s00415-021-10957-0 |
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https://ddd.uab.cat/record/280854 https://dx.doi.org/urn:doi:10.1007/s00415-021-10957-0 |
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Inglés eng |
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Inglés |
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eng |
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Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 PI18/01374 Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PMP15/00025 |
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open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/ |
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info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/ |
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openAccess |
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