Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

被引：0

作者：

Cristina Domínguez-González

Roberto Fernández-Torrón

Ursula Moore

Carlos Pablo de Fuenmayor-Fernández de la Hoz

Beatriz Vélez-Gómez

Juan Antonio Cabezas

Jorge Alonso-Pérez

Laura González-Mera

Montse Olivé

Jorge García-García

Germán Moris

Juan Carlos León Hernández

Nuria Muelas

Emilia Servian-Morilla

Miguel A. Martin

Jordi Díaz-Manera

Carmen Paradas

机构：

[1] Hospital Universitario 12 de Octubre,Neuromuscular Diseases Unit, Neurology Department

[2] Hospital 12 de Octubre Research Institute (imas12),Biomedical Network Research Centre on Rare Diseases (CIBERER)

[3] Instituto de Salud Carlos III,Neurology Department, Biodonostia Health Research Institute, Neuromuscular Area

[4] Hospital Donostia,John Walton Muscular Dystrophy Research Center

[5] Basque Health Service,Neuromuscular Diseases Unit, Neurology Department

[6] University of Newcastle,Neuromuscular Diseases Unit, Neurology Department

[7] Hospital Universitario Virgen del Rocío/ Instituto de Biomedicina de Sevilla,Neuromuscular Diseases Unit, Neurology Department

[8] Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED),Institut de Recerca

[9] Hospital de la Santa Creu i Sant Pau,Department of Neurology. Hospital

[10] Universitat Autònoma de Barcelona,Neuromuscular Diseases Unit. Neurology Department. Hospital

[11] IDIBELL-Hospital Universitari de Bellvitge,Neurology Department. Hospital

[12] Hospitalet de Llobregat,Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politecnic La Fe, Neuromuscular and Ataxias Research Group

[13] Hospital de la Santa Creu i Sant Pau,Mitochondrial Disorders Laboratory, Clinical Biochemistry Department

[14] Universitario de Albacete.,Unidad de Enfermedades Neuromusculares (CSUR/EURO

[15] Universitario Central de Asturias,NMD)

[16] Universitario Nuestra Señora de Candelaria,undefined

[17] Instituto de Investigación Sanitaria La Fe,undefined

[18] Hospital Universitario 12 de Octubre,undefined

[19] Hospital Universitario Virgen del Rocío/ Instituto de Biomedicina de Sevilla,undefined

[20] John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute Central Parkway,undefined

来源：

Journal of Neurology | 2022年 / 269卷

关键词：

TK2; Mitochondrial myopathy; MRI;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

页码：3550 / 3562

页数：12

共 50 条

[1] Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
Dominguez-Gonzalez, Cristina
Fernandez-Torron, Roberto
Moore, Ursula
de Fuenmayor-Fernandez de la Hoz, Carlos Pablo
Velez-Gomez, Beatriz
Antonio Cabezas, Juan
Alonso-Perez, Jorge
Gonzalez-Mera, Laura
Olive, Montse
Garcia-Garcia, Jorge
Moris, German
Leon Hernandez, Juan Carlos
Muelas, Nuria
Servian-Morilla, Emilia
Martin, Miguel A.
Diaz-Manera, Jordi
Paradas, Carmen
JOURNAL OF NEUROLOGY, 2022, 269 (07) : 3550 - 3562
[2] Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
Dominguez-Gonzalez, C.
Fernandez-Torron, R.
Moore, U.
Velez, B.
Perez, J. Alonso
Gonzalez-Mera, L.
Olive, M.
Garcia, J. Garcia
Moris, G.
Hernandez, J. Leon
Muelas, N.
de Fuenmayor Fernandez de la H, C.
Martin, M.
Diaz-Manera, J.
Paradas, C.
NEUROMUSCULAR DISORDERS, 2021, 31 : S151 - S151
[3] LATE-ONSET RESPIRATORY FAILURE DUE TO TK2 MUTATIONS CAUSING MULTIPLE mtDNA DELETIONS
Alston, Charlotte L.
Schaefer, Andrew M.
Raman, Pravrutha
Solaroli, Nicola
Krishnan, Kim J.
Blakely, Emma L.
He, Langping
Craig, Kate
Roberts, Mark
Vyas, Aashish
Nixon, John
Horvath, Rita
Turnbull, Douglass M.
Karlsson, Anna
Gorman, Grainne S.
Taylor, Robert W.
NEUROLOGY, 2013, 81 (23) : 2051 - 2053
[4] Late-onset TK2-Deficiency Patients from Turkey
Durmus, Hacer Y.
Cakar, Arman
Parman, Yesim
NEUROLOGY, 2021, 96 (15)
[5] LATE-ONSET MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
DANON, MJ
SERVIDEI, S
DIMAURO, S
VORA, S
NEUROLOGY, 1988, 38 (06) : 956 - 960
[6] Severe late onset mitochondrial myopathy caused by TK2 mutations
Verges Gil, E.
Gascon Bayarri, J.
Carreno-Gago, L.
Garcia-Arumi, E.
Olive Plana, M.
NEUROMUSCULAR DISORDERS, 2016, 26 : S178 - S178
[7] UNUSUAL PATTERN OF URINE ORGANIC ACIDS IN A PATIENT WITH TK2 DEFICIENCY
Almuqbil, Mohammed
Higashimoto, Tomoyasu
Kim, Alexander Y.
Mu, Weiyi
Hamosh, Ada
Kratz, Lisa
MOLECULAR GENETICS AND METABOLISM, 2019, 127 (03) : 248 - 248
[8] UNUSUAL PATTERN OF URINE ORGANIC ACIDS IN A PATIENT WITH TK2 DEFICIENCY
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[9] Progressive muscle atrophy with selective loss of muscle fibers in a patient with mtDNA TK2 deficiency
Vilà, M
Limongelli, A
Castellote, A
García-Arumí, E
Lloreta, J
Meseguer, A
Zeviani, M
Roig, M
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2004, 1657 : 75 - 75
[10] Mutation of the TK2 gene and late onset myopathy: description of the first Mexican case
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Diaz-Campos, Marcos O.
Santos-Vazquez, Gabriel
Normendez-Martinez, Monica
San-Juan, Daniel
Anschel, David J.
REVISTA DE NEUROLOGIA, 2018, 67 (06) : 232 - 232

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