DUCHENNE MUSCULAR DYSTROPHY CAUSED BY A NOVEL DEEP INTRONIC DMD MUTATION

被引：6
|
作者：
Ginsberg, Matthew R. [1 ]
McCarty, Andrew J. [2 ]
Lacomis, David [3 ,4 ,5 ]
Abdel-Hamid, Hoda Z. [1 ]
机构：
[1] Childrens Hosp Pittsburgh, Dept Pediat Neurol, Pittsburgh, PA 15213 USA
[2] Childrens Hosp Pittsburgh, Dept Lab Serv, Pittsburgh, PA 15213 USA
[3] Univ Pittsburgh, Dept Neurol, Sch Med, Pittsburgh, PA 15260 USA
[4] UPMC, Pittsburgh, PA USA
[5] Univ Pittsburgh, Sch Med, Dept Pathol Neuropathol, Pittsburgh, PA USA
来源：
MUSCLE & NERVE | 2018年 / 57卷 / 06期
关键词：
DMD; Duchenne muscular dystrophy; intronic; mutation; splice-site;
D O I：
10.1002/mus.26073
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：E136 / E138
页数：3
相关论文
共 50 条
  • [41] Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism
    Chen, Jianhai
    Jia, Yangying
    Zhong, Jie
    Zhang, Kun
    Dai, Hongzheng
    He, Guanglin
    Li, Fuping
    Zeng, Li
    Fan, Chuanzhu
    Xu, Huayan
    JOURNAL OF MEDICAL GENETICS, 2024, 61 (08) : 741 - 749
  • [42] ACT DMD: effect of ataluren on timed function tests in nonsense mutation Duchenne muscular dystrophy
    Bushby, K.
    Campbell, C.
    McDonald, C. M.
    Voit, T.
    Luo, X.
    Elfring, G.
    Kroger, H.
    Riebling, P.
    Ong, T.
    Spiegel, R.
    Peltz, S. W.
    Goemans, N.
    NEUROMUSCULAR DISORDERS, 2016, 26 : S5 - S5
  • [43] LARGE DELETIONS IN DMD GENE IS THE MOST PREVALENCE MUTATION IN RUSSIAN CHILDREN WITH DUCHENNE MUSCULAR DYSTROPHY
    Savostyanov, Kirill
    Pushkov, Alexander
    Kuzenkova, Ludmila
    Zhurkova, Natalya
    Nikitin, Alexey
    Kurenkov, Alexey
    Bursagova, Bella
    Trufanov, Sergey
    ARCHIVES OF DISEASE IN CHILDHOOD, 2019, 104 : A81 - A81
  • [44] Chimeric Cell Therapies as a Novel Approach for Duchenne Muscular Dystrophy (DMD) and Muscle Regeneration
    Budzynska, Katarzyna
    Siemionow, Maria
    Stawarz, Katarzyna
    Chambily, Lucile
    Siemionow, Krzysztof
    BIOMOLECULES, 2024, 14 (05)
  • [45] A novel canine model for Duchenne muscular dystrophy (DMD): single nucleotide deletion in DMD gene exon 20
    Lopez, Sara Mata
    Hammond, James J.
    Rigsby, Madison B.
    Balog-Alvarez, Cynthia J.
    Kornegay, Joe N.
    Nghiem, Peter P.
    SKELETAL MUSCLE, 2018, 8
  • [46] A novel canine model for Duchenne muscular dystrophy (DMD): single nucleotide deletion in DMD gene exon 20
    Sara Mata López
    James J. Hammond
    Madison B. Rigsby
    Cynthia J. Balog-Alvarez
    Joe N. Kornegay
    Peter P. Nghiem
    Skeletal Muscle, 8
  • [47] DUCHENNE MUSCULAR-DYSTROPHY - FROM THE DMD GENE TO DYSTROPHIN
    CHELLY, J
    KAPLAN, JC
    M S-MEDECINE SCIENCES, 1988, 4 (03): : 141 - 150
  • [48] Nutritional status and admission risk in Duchenne muscular dystrophy (DMD)
    Reddy, Angela
    Weekes, Christine Elizabeth
    Ahmed, Hafez
    Hart, Nicholas
    EUROPEAN RESPIRATORY JOURNAL, 2013, 42
  • [49] THE BUDGET IMPACT OF DEFLAZACORT FOR THE TREATMENT OF DUCHENNE MUSCULAR DYSTROPHY (DMD)
    Carlton, R.
    Regan, T.
    Narayanan, S.
    VALUE IN HEALTH, 2018, 21 : S250 - S250
  • [50] Strategies for Engaging the Duchenne Muscular Dystrophy (DMD) Community in Research
    Bendixen, Roxanna
    Morgenroth, Lauren
    INTERNATIONAL JOURNAL OF QUALITATIVE METHODS, 2016, 15 (01):
12345