A NOVEL MUTATION OF THE DESMIN GENE IN DESMIN MYOPATHY

被引：0
|
作者：
Ramaswamy, Swathi Beladakere
Bhagavan, Sachin M.
Govindarajan, Raghav
机构：
来源：
MUSCLE & NERVE | 2021年 / 64卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
56
引用
收藏
页码：S31 / S31
页数：1
相关论文
共 50 条
  • [1] A novel mutation in desmin gene causing desmin myopathy
    Ramaswamy, Swathi Beladakere
    Bhagavan, Sachin
    Mehta, Tejas
    Govindarajan, Raghav
    NEUROLOGY, 2021, 96 (15)
  • [2] A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates
    Sugawara, M
    Kato, K
    Komatsu, M
    Wada, C
    Kawamura, K
    Shindo, S
    Yoshioka, N
    Tanaka, K
    Watanabe, S
    Toyoshima, I
    NEUROLOGY, 2000, 55 (07) : 986 - 990
  • [3] A Novel Desmin Gene Mutation Associated with Distal Myopathy and Cardiomyopathy - A Case Report
    Daniel, Annie
    Whitaker, Charles
    Woods, Jared
    Flugrad, Rebecca
    Wu, Qian
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2016, 75 (06): : 580 - 580
  • [4] A novel desmin mutation S13F in a case of spheroid body myopathy with desmin
    Pica, FC
    Pramono, ZAD
    Lai, PS
    Yee, WC
    NEUROMUSCULAR DISORDERS, 2004, 14 (8-9) : 565 - 565
  • [5] Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
    Dalakas, MC
    Park, KY
    Semino-Mora, C
    Lee, HS
    Sivakumar, K
    Goldfarb, LG
    NEW ENGLAND JOURNAL OF MEDICINE, 2000, 342 (11): : 770 - 780
  • [6] Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy
    Dunand, Murielle
    Lobrinus, Johannes A.
    Jeannet, Pierre-Yves
    Behin, Anthony
    Claeys, Kristl G.
    Selcen, Duygu
    Kuntzer, Thierry
    NEUROMUSCULAR DISORDERS, 2009, 19 (11) : 802 - 802
  • [7] MYOFIBRILLAR MYOPATHY CAUSED BY A MUTATION IN THE DESMIN GENE: EXPANDING THE PHENOTYPE
    Albertyn, C.
    Maguire, C.
    Murphy, R. P.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2010, 81 (11): : E61 - E61
  • [8] Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family
    Nicolau, Stefan
    Howe, Benjamin M.
    Naddaf, Elie
    FRONTIERS IN NEUROLOGY, 2020, 10
  • [9] Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy
    Harada, Haruhito
    Hayashi, Takeharu
    Nishi, Hirofumi
    Kusaba, Ken
    Koga, Yoshinori
    Koga, Yasutoshi
    Nonaka, Ikuya
    Kimura, Akinori
    JOURNAL OF HUMAN GENETICS, 2018, 63 (02) : 249 - 254
  • [10] A novel desmin mutation associated with skeletal myopathy and heart block
    Holton, JL
    Revesz, T
    Bhardwaj, N
    Venner, K
    Vicart, P
    Goldfarb, L
    Clarke, C
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2005, 31 (02) : 239 - 239
12345