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
  • [21] Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype
    Damasio, Joana
    Santos, Mariana
    Samoes, Raquel
    Araujo, Maria
    Macedo, Mafalda
    Sardoeira, Ana
    Cavaco, Sara
    Freitas, Joel
    Barros, Jose
    Oliveira, Jorge
    Sequeiros, Jorge
    CLINICAL GENETICS, 2021, 100 (06) : 743 - 747
  • [22] Expanding phenotype and clinical heterogeneity in patients with identical mutation of the parkin gene
    Kunishige, M
    Mitsui, T
    Kuroda, Y
    Yoshida, S
    Kosaka, M
    Matsumoto, T
    EUROPEAN NEUROLOGY, 2004, 51 (03) : 183 - 185
  • [23] Expanding the Phenotype of KCNA2 Mutation: Tics and Stereotypies
    Legacy, J.
    Burns, M.
    ElKouzi, A.
    Deeb, W.
    Malaty, I.
    MOVEMENT DISORDERS, 2019, 34 : S213 - S213
  • [24] A Novel Intronic Mutation in TK2 Affects mRNA Expression and Causes Adult-Onset Mitochondrial Depletion Syndrome
    Lopez-Gomez, Carlos
    Garone, Caterina
    Karch, Christoph
    Vogel, Hannes
    Ralph, Jeffrey
    Hirano, Michio
    NEUROLOGY, 2016, 86
  • [25] Preferential diaphragmatic involvement in TK2 deficiency: an autopsy case study
    Dominguez-Gonzalez, C.
    Laine-Menendez, S.
    Delmiro, A.
    Garcia-Consuegra, I.
    Fernandez-de la Torre, M.
    Hernandez-Lain, A.
    Sayas, J.
    de Fuenmayor, C.
    Martin, M.
    Moran, M.
    NEUROMUSCULAR DISORDERS, 2021, 31 : S114 - S114
  • [26] Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression
    Manini, Arianna
    Meneri, Megi
    Rodolico, Carmelo
    Corti, Stefania
    Toscano, Antonio
    Comi, Giacomo Pietro
    Musumeci, Olimpia
    Ronchi, Dario
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [27] 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
  • [28] 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
  • [29] 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, 126 (03) : 284 - 284
  • [30] Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype
    Carecchio, Miryam
    Panteghini, Celeste
    Reale, Chiara
    Barzaghi, Chiara
    Monti, Valentina
    Romito, Luigi
    Sasanelli, Francesco
    Garavaglia, Barbara
    PARKINSONISM & RELATED DISORDERS, 2016, 23 : 66 - 71
12345