Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant

被引:0
|
作者
Llaurado, Arnau [1 ]
Gratacos-Vinola, Margarida [2 ]
Rovira-Moreno, Eulalia [3 ]
Codina-Sola, Marta [3 ]
Salvado, Maria [1 ]
Sanchez-Tejerina, Daniel [1 ]
Sotoca, Javier [1 ]
Raguer, Nuria [2 ]
Garcia-Arumi, Elena [3 ]
Juntas-Morales, Raul [1 ]
机构
[1] Univ Autonoma Barcelona, Hosp Univ Vall dHebron, Dept Neurol, Neuromuscular Dis Unit,European Reference Network, Barcelona, Spain
[2] Univ Autonoma Barcelona, Hosp Vall dHebron, Dept Clin Neurophysiol, Barcelona, Spain
[3] Univ Autonoma Barcelona, Hosp Vall dHebron, Dept Clin & Mol Genet, Barcelona, Spain
关键词
TRANSFER-RNA SYNTHETASE;
D O I
10.1002/mus.27788
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:E22 / E24
页数:3
相关论文
共 50 条
  • [21] A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family
    Theuriet, Julian
    Marte, Sheila
    Isapof, Arnaud
    de Becdelievre, Alix
    Konyukh, Marina
    Laureano-Figueroa, Stephanie M.
    Latour, Philippe
    Quadrio, Isabelle
    Maisonobe, Thierry
    Antonellis, Anthony
    Stojkovic, Tanya
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2024, 29 (02) : 275 - 278
  • [22] Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease
    Esteve, Clothilde
    Roman, Celine
    DeLeusse, Cecile
    Baravalle, Melissa
    Bertaux, Karine
    Blanc, Frederic
    Bourgeois, Patrice
    Bresson, Violaine
    Cano, Aline
    Coste, Marie-Edith
    Delteil, Clemence
    Lacoste, Caroline
    Loosveld, Marie
    De Paula, Andre Maues
    Monnier, Anne-Sophie
    Secq, Veronique
    Levy, Nicolas
    Badens, Catherine
    Fabre, Alexandre
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2021, 64 (10)
  • [23] Cole disease due to a novel pathogenic variant in the ENPP1 gene
    Nanda, A.
    Xiong, X.
    AlLafi, A.
    Cesarato, N.
    Betz, R. C.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2022, 36 (07) : E559 - E561
  • [24] A novel WARS mutation causes distal hereditary motor neuropathy in a Chinese family
    Li, Jia-Qi
    Dong, Hai-Lin
    Chen, Cong-Xin
    Wu, Zhi-Ying
    BRAIN, 2019, 142
  • [25] In Silico analysis of SIGMAR1 gene causing distal hereditary motor neuropathy in a Pakistani family
    Mehmood, Sarmad
    Harlalka, Gaurav V.
    Dad, Rubina
    Chioza, Barry A.
    Ullah, Muhammad I.
    Ahmad, Arsalan
    Crosby, Andrew H.
    Baple, Emma L.
    Hassan, Muhammad J.
    GENE REPORTS, 2019, 16
  • [26] Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
    Smith, Ian C.
    Pileggi, Chantal A.
    Wang, Ying
    Kernohan, Kristin
    Hartley, Taila
    McMillan, Hugh J.
    Sampaio, Marcos Loreto
    Melkus, Gerd
    Woulfe, John
    Parmar, Gaganvir
    Bourque, Pierre R.
    Breiner, Ari
    Zwicker, Jocelyn
    Pringle, C. Elizabeth
    Jarinova, Olga
    Lochmueller, Hanns
    Dyment, David A.
    Brais, Bernard
    Boycott, Kym M.
    Hekimi, Siegfried
    Harper, Mary-Ellen
    Warman-Chardon, Jodi
    NEUROLOGY-GENETICS, 2023, 9 (01)
  • [27] Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy - A new distal hereditary motor neuropathy phenotype
    Haberlova, J.
    Claeys, K. G.
    De Jonghe, P.
    Seeman, P.
    NEUROMUSCULAR DISORDERS, 2009, 19 (06) : 427 - 428
  • [28] Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants
    Ma, Maxwell T.
    Chen, Dong-Hui
    Raskind, Wendy H.
    Bird, Thomas D.
    NEUROMUSCULAR DISORDERS, 2020, 30 (07) : 572 - 575
  • [29] Thirty-three Years to Diagnosis: Distal Hereditary Motor Neuropathy Type VA with a Novel Variant in BSCL2
    Herbst, John
    Avila, David
    Williamson, Madeline
    NEUROLOGY, 2021, 96 (15)
  • [30] DISTAL HEREDITARY MOTOR NEUROPATHY: A BRAZILIAN COHORT STUDY
    Tomaselli, Pedro
    Frezatti, Rodrigo
    Figueiredo, Fernanda
    Gouvea, Silmara
    Reilly, Mary
    Marques, Wilson, Jr.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2022, 27 : S137 - S137