TK2 mutation: An expanding clinical phenotype

被引：0
|
作者：
Ram, D. [1 ]
Hughes, M. I. [1 ]
机构：
[1] Royal Manchester Childrens Hosp, Manchester M27 1HA, Lancs, England
来源：
NEUROMUSCULAR DISORDERS | 2014年 / 24卷 / 9-10期
关键词：
D O I：
10.1016/j.nmd.2014.06.239
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
G.P.183
引用
收藏
页码：865 / 865
页数：1
相关论文
共 50 条
  • [1] TK2 Mutation Presenting as Indolent Myopathy
    Lopez, Carmen Paradas
    Rios, Purificacion Gutierrez
    Rivas Infante, Eloy
    Carbonell, Pilar
    Hirano, Michio
    DiMauro, Salvatore
    NEUROLOGY, 2013, 80
  • [2] TK2 MUTATION PRESENTING AS INDOLENT MYOPATHY
    Paradas, Carmen
    Rios, Purificacion Gutierrez
    Rivas, Eloy
    Carbonell, Pilar
    Hirano, Michio
    DiMauro, Salvatore
    NEUROLOGY, 2013, 80 (05) : 504 - 506
  • [3] Clinical and Genetic Analysis of Patients With TK2 Deficiency
    Ceballos, Francisco
    Serrano-Lorenzo, Pablo
    Bermejo-Guerrero, Laura
    Blazquez, Alberto
    Quesada-Espinosa, Juan F.
    Amigo, Jorge
    Minguez, Pablo
    Ayuso, Carmen
    Garcia-Arumi, Elena
    Muelas, Nuria
    Jaijo, Teresa
    Nascimento, Andres
    Galan-Rodriguez, Beatriz
    Paradas, Carmen
    Arenas, Joaquin
    Carracedo, Angel
    Marti, Ramon
    Martin, Miguel A.
    Dominguez-Gonzalez, Cristina
    NEUROLOGY-GENETICS, 2024, 10 (02)
  • [4] Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene
    Martin-Hernandez, Elena
    Teresa Garcia-Silva, Maria
    Quijada-Fraile, Pilar
    Elena Rodriguez-Garcia, Maria
    Rivera, Henry
    Hernandez-Lain, Aurelio
    Coca-Robinot, David
    Fernandez-Toral, Joaquin
    Arenas, Joaquin
    Martin, Miguel A.
    Martinez-Azorin, Francisco
    PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, 2017, 20 (05) : 416 - 420
  • [5] Clinical and genetic characterization of Brazilian patients with TK2 deficiency
    Moreno, C.
    Tacio Quadros Santos Monteiro Fonseca, A.
    Cunha Artilheiro, M.
    Macedo Serafim da Silva, A.
    de Paula Estephan, E.
    Abdo Paiva, M.
    Gontijo Camelo, C.
    Santos Pessoa, A.
    Paranhos Miranda Covalesk, A.
    Tomaselli, P.
    Scarpellini, G.
    Gurgel-Giannetti, J.
    Holanda Mendonca, R.
    Maroco Cruzeiro, M.
    Marques Junior, W.
    Ferreira da Rosa Sobreira, C.
    Hirano, M.
    Andres Nascimento, A.
    Schlesinger, D.
    Zanoteli, E.
    NEUROMUSCULAR DISORDERS, 2024, 43
  • [6] EXPANDING THE CLINICAL PHENOTYPE OF PATIENTS WITH A ARS2 MUTATION
    Mroczkowski, Henry
    Rossi, Gian
    Caron, Elena
    MOLECULAR GENETICS AND METABOLISM, 2019, 127 (03) : 289 - 289
  • [7] EXPANDING THE CLINICAL PHENOTYPE OF PATIENTS WITH A ARS2 MUTATION
    Mroczkowski, Henry
    Rossi, Gian
    Caron, Elena
    MOLECULAR GENETICS AND METABOLISM, 2019, 126 (03) : 317 - 317
  • [8] Adult cases of mitochondrial DNA depletion due to TK2 defect An expanding spectrum
    Behin, A.
    Jardel, C.
    Claeys, K. G.
    Fagart, J.
    Louha, M.
    Romero, N. B.
    Laforet, P.
    Eymard, B.
    Lombes, A.
    NEUROLOGY, 2012, 78 (09) : 644 - 648
  • [9] Mutation of the TK2 gene and late onset myopathy: description of the first Mexican case
    Castro-Macias, Jaime I.
    Quijas-Aldana, Ivan
    Diaz-Campos, Marcos O.
    Santos-Vazquez, Gabriel
    Normendez-Martinez, Monica
    San-Juan, Daniel
    Anschel, David J.
    REVISTA DE NEUROLOGIA, 2018, 67 (06) : 232 - 232
  • [10] Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity
    Kacem, Imen
    Sghaier, Ikram
    Ticozzi, Nicola
    Mrabet, Saloua
    Paverelli, Silvia
    Nasri, Amina
    Ratti, Antonia
    Ben Djebara, Mouna
    Gargouri-Berrachid, Amina
    Silani, Vincenzo
    Gouider, Riadh
    AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2022, 23 (7-8) : 623 - 626
12345