Becker muscular dystrophy with widespread muscle hypertrophy and a nonsense mutation of exon 2

被引：1
|
作者：
Flanigan, Kevin M. [1 ]
Wein, Nicolas [1 ]
Gurvich, Olga L. [2 ]
Howard, Michael T. [3 ]
Weiss, Robert B. [3 ]
机构：
[1] Nationwide Childrens Hosp, Ctr Gene Therapy, Columbus, OH 43209 USA
[2] Metkinen Chem, Kuopio, Finland
[3] Univ Utah, Dept Human Genet, Salt Lake City, UT USA
来源：
NEUROMUSCULAR DISORDERS | 2013年 / 23卷 / 02期
关键词：
D O I：
10.1016/j.nmd.2012.11.012
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：192 / 192
页数：1
相关论文
共 50 条
  • [21] Double the trouble: familial hyperlipidemia and Becker muscular dystrophy with a hemizygous nonsense mutation in the dystrophin (DMD) gene
    Sayar, Y.
    Yildirim, M.
    Bektas, O.
    Sut, N. Yeniay
    Teber, S.
    NEUROMUSCULAR DISORDERS, 2021, 31 : S89 - S89
  • [22] Improvements in muscle function and accidental falling in Ataluren-treated patients with nonsense mutation dystrophinopathy (Duchenne/Becker Muscular Dystrophy - nmDBMD)
    Russman, B. S.
    Mathews, K. D.
    Sampson, J. B.
    Renfroe, J. B.
    Morsy, M. A.
    Elfring, G. L.
    Barth, J. A.
    Peltz, S. W.
    ANNALS OF NEUROLOGY, 2011, 70 : S172 - S172
  • [23] PATTERNS OF EXON DELETIONS IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY
    READ, AP
    MOUNTFORD, RC
    FORREST, SM
    KENWRICK, SJ
    DAVIES, KE
    HARRIS, R
    HUMAN GENETICS, 1988, 80 (02) : 152 - 156
  • [24] Extraocular muscle involvement in Becker muscular dystrophy
    Scelsa, SN
    Simpson, DM
    Reichler, BD
    Dai, MJ
    NEUROLOGY, 1996, 46 (02) : 564 - 566
  • [25] MUSCLE HISTOLOGY IN BECKER MUSCULAR-DYSTROPHY
    KAIDO, M
    ARAHATA, K
    HOFFMAN, EP
    NONAKA, I
    SUGITA, H
    MUSCLE & NERVE, 1991, 14 (11) : 1067 - 1073
  • [26] The Paradox of Muscle Hypertrophy in Muscular Dystrophy
    Kornegay, Joe N.
    Childers, Martin K.
    Bogan, Daniel J.
    Bogan, Janet R.
    Nghiem, Peter
    Wang, Jiahui
    Fan, Zheng
    Howard, James F., Jr.
    Schatzberg, Scott J.
    Dow, Jennifer L.
    Grange, Robert W.
    Styner, Martin A.
    Hoffman, Eric P.
    Wagner, Kathryn R.
    PHYSICAL MEDICINE AND REHABILITATION CLINICS OF NORTH AMERICA, 2012, 23 (01) : 149 - +
  • [27] Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
    Wagner, KR
    Hamed, S
    Hadley, DW
    Gropman, AL
    Burstein, AH
    Escolar, DM
    Hoffman, EP
    Fischbeck, KH
    ANNALS OF NEUROLOGY, 2001, 49 (06) : 706 - 711
  • [28] POINT MUTATION IN A BECKER MUSCULAR-DYSTROPHY PATIENT
    ROBERTS, RG
    PASSOSBUENO, MR
    BOBROW, M
    VAINZOF, M
    ZATZ, M
    HUMAN MOLECULAR GENETICS, 1993, 2 (01) : 75 - 77
  • [29] Improvements in Muscle Function and Accidental Falling in Ataluren-Treated Patients with Nonsense Mutation Dystrophinopathy (Duchenne/Becker Muscular Dystrophy-nmDBMD)
    McDonald, Craig
    Wong, Brenda
    Finkel, Richard S.
    Sproule, Douglas M.
    Reha, Allen
    Elfring, G. L.
    Barth, Jay
    NEUROLOGY, 2011, 77 (02) : 197 - 197
  • [30] Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients
    Capitanio, Daniele
    Moriggi, Manuela
    Torretta, Enrica
    Barbacini, Pietro
    De Palma, Sara
    Vigano, Agnese
    Lochmueller, Hanns
    Muntoni, Francesco
    Ferlini, Alessandra
    Mora, Marina
    Gelfi, Cecilia
    JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE, 2020, 11 (02) : 547 - 563
12345