Analysis of mutations in the sarcoglycan genes in patients with limb-girdle muscular dystrophy.

被引：0
|
作者：
Kasparcova, V
Mendell, J
Wall, C
Wilson, JM
Moors, SA
Campbell, KP
Piccolo, F
McCullough, BA
Stolle, CA
机构：
[1] Univ Penn, Sch Med, Dept Genet, Philadelphia, PA 19104 USA
[2] Ohio State Univ, Dept Neurol, Columbus, OH 43210 USA
[3] Univ Penn, Sch Med, Inst Human Gene Therapy, Philadelphia, PA 19104 USA
[4] Univ Iowa, Coll Med, Dept Pathol, Iowa City, IA 52242 USA
[5] Univ Iowa, Coll Med, Howard Hughes Med Inst, Dept Physiol, Iowa City, IA 52242 USA
[6] Univ Iowa, Coll Med, Howard Hughes Med Inst, Dept Biophys, Iowa City, IA 52242 USA
[7] Univ Iowa, Coll Med, Howard Hughes Med Inst, Dept Neurol, Iowa City, IA 52242 USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 67卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
2255
引用
收藏
页码：401 / 401
页数：1
相关论文
共 50 条
  • [41] Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations
    Balcin, Hasan
    Palmio, Johanna
    Penttila, Sini
    Nennesmo, Inger
    Lindfors, Mikaela
    Solders, Goran
    Udd, Bjarne
    NEUROMUSCULAR DISORDERS, 2017, 27 (07) : 627 - 630
  • [42] Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients
    Magri, Francesca
    Del Bo, Roberto
    D'Angelo, Maria Grazia
    Sciacco, Monica
    Gandossini, Sandra
    Govoni, Alessandra
    Napoli, Laura
    Ciscato, Patrizia
    Fortunato, Francesco
    Brighina, Erika
    Bonato, Sara
    Bordoni, Andreina
    Lucchini, Valeria
    Corti, Stefania
    Moggio, Maurizio
    Bresolin, Nereo
    Comi, Giacomo Pietro
    NEUROMUSCULAR DISORDERS, 2012, 22 (11) : 934 - 943
  • [43] Unravelling the effects of caveolin-3 mutations in limb-girdle muscular dystrophy
    Lo, HP
    Compton, AG
    Hernandez-Deviez, DJ
    Parton, RG
    North, KN
    Cooper, ST
    NEUROMUSCULAR DISORDERS, 2005, 15 (9-10) : 678 - 678
  • [44] Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations
    Lasa-Elgarresta, Jaione
    Mosqueira-Martin, Laura
    Naldaiz-Gastesi, Neia
    Saenz, Amets
    Lopez de Munain, Adolfo
    Vallejo-Illarramendi, Ainara
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2019, 20 (18)
  • [45] Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy
    Sveen, Marie-Louise
    Thune, Jens Jakob
    Kober, Lars
    Vissing, John
    ARCHIVES OF NEUROLOGY, 2008, 65 (09) : 1196 - 1201
  • [46] Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered
    McDonald, Kristin K.
    Stajich, Jeffrey
    Blach, Colette
    Ashley-Koch, Allison E.
    Hauser, Michael A.
    PLOS ONE, 2012, 7 (11):
  • [47] Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D
    James R. Mickelson
    Katie M. Minor
    Ling T. Guo
    Steven G. Friedenberg
    Jonah N. Cullen
    Amanda Ciavarella
    Lydia E. Hambrook
    Karen M. Brenner
    Sarah E. Helmond
    Stanley L. Marks
    G. Diane Shelton
    Skeletal Muscle, 11
  • [48] FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 21 in Asian patients
    Awano, Hiroyuki
    Saito, Yoshihiko
    Shimizu, Mamiko
    Sekiguchi, Kenji
    Niijima, Shinichi
    Matsuo, Masafumi
    Maegaki, Yoshihiro
    Izumi, Isho
    Kikuchi, Chiya
    Ishibashi, Masato
    Okazaki, Tetsuya
    Komaki, Hirofumi
    Iijima, Kazumoto
    Nishino, Ichizo
    JOURNAL OF CLINICAL NEUROSCIENCE, 2021, 92 : 215 - 221
  • [49] ε-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D
    Ettinger, AJ
    Feng, GP
    Sanes, JR
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (51) : 32534 - 32538
  • [50] Homozygous β-sarcoglycan gene deletion in a family with limb-girdle muscular dystrophy type 2E
    Kaindl, AM
    Jakubiczka, S
    Luecke, T
    Mitzscherling, P
    Poppe, M
    Handschug, K
    Huebner, A
    ANNALS OF NEUROLOGY, 2003, 54 : S154 - S154
12345