Welander distal myopathy is not linked to other defined distal myopathy gene loci

被引:13
|
作者
Ahlberg, G [1 ]
Borg, K [1 ]
Edstrom, L [1 ]
Anvret, M [1 ]
机构
[1] KAROLINSKA HOSP,DEPT NEUROL,S-17176 STOCKHOLM,SWEDEN
关键词
Welander distal myopathy; exclusion mapping; linkage; allelic heterogeneity;
D O I
10.1016/S0960-8966(97)00451-3
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Welander distal myopathy is an autosomal dominant disorder with late onset that affects extensor muscles of the hands and the feet. The disorder is considered as the most prevalent of the distal myopathies and is almost only seen in Sweden and in some parts of Finland. On clinical, morphological and genetical grounds the disorder is clearly separated from other distal myopathies. We have performed linkage analysis with the MLINK program in a total of six families with microsatellite markers dispersed throughout the genome and report exclusion for the localisation of the gene of 64% of the human genome, These studies have clearly separated Welander distal myopathy from previously mapped forms of distal myopathy such as the Miyoshi myopathy by excluding linkage to chromosome 2. The region on 14q that has been suggested to house the gene of the distal myopathy described by Laing et al. (Am J Hum Genet 1995;56:422-7), has as well been excluded by several markers. (C) 1997 Elsevier Science B.V.
引用
收藏
页码:256 / 260
页数:5
相关论文
共 50 条
  • [31] Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy)
    T. Asaka
    K. Ikeuchi
    S. Okino
    Y. Takizawa
    R. Satake
    E. Nitta
    K. Komai
    K. Endo
    S. Higuchi
    T. Oyake
    T. Yoshimura
    A. Suenaga
    E. Uyama
    T. Saito
    M. Konagaya
    N. Sunohara
    R. Namba
    H. Takada
    K. Honke
    M. Nishina
    H. Tanaka
    M. Shinagawa
    K. Tanaka
    A. Matsushima
    S. Tsuji
    M. Takamori
    Journal of Human Genetics, 2001, 46 : 649 - 655
  • [32] Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy)
    Asaka, T
    Ikeuchi, K
    Okino, S
    Takizawa, Y
    Satake, R
    Nitta, E
    Komai, K
    Endo, K
    Higuchi, S
    Oyake, T
    Yoshimura, T
    Suenaga, A
    Uyama, E
    Saito, T
    Konagaya, M
    Sunohara, N
    Namba, R
    Takada, H
    Honke, K
    Nishina, M
    Tanaka, H
    Shinagawa, M
    Tanaka, K
    Matsushima, A
    Tsuji, S
    Takamori, M
    JOURNAL OF HUMAN GENETICS, 2001, 46 (11) : 649 - 655
  • [33] Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1
    Hackman, Peter
    Sarparanta, Jaakko
    Lehtinen, Sara
    Vihola, Anna
    Evila, Anni
    Jonson, Per Harald
    Luque, Helena
    Kere, Juha
    Screen, Mark
    Chinnery, Patrick F.
    Ahlberg, Gabrielle
    Edstrom, Lars
    Udd, Bjarne
    ANNALS OF NEUROLOGY, 2013, 73 (04) : 500 - 509
  • [34] Distal myopathy caused by a homozygous mutation in the titin gene
    Negrao, L.
    Penttila, S.
    Matos, A.
    Rebelo, O.
    Geraldo, A.
    Vihola, A.
    Hackman, P.
    Udd, B.
    NEUROMUSCULAR DISORDERS, 2011, 21 (9-10) : 678 - 678
  • [35] Clinical utility gene card for: Laing distal myopathy
    Lamont, Phillipa
    Wallefeld, William
    Davis, Mark
    Udd, Bjarne
    Laing, Nigel
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (03) : 3 - 3
  • [36] Clinical utility gene card for: Laing distal myopathy
    Phillipa Lamont
    William Wallefeld
    Mark Davis
    Bjarne Udd
    Nigel Laing
    European Journal of Human Genetics, 2011, 19 : 3 - 3
  • [37] A rare case of distal myopathy
    Jain, Rahul
    Anand, Kuljeet
    Juneja, Abhishek
    INDIAN JOURNAL OF PATHOLOGY AND MICROBIOLOGY, 2022, 65 (01) : 232 - 233
  • [38] Distal myopathy with associated hemiatrophy
    Goyal, N.
    Nayyar, S.
    Mozaffar, T.
    NEUROMUSCULAR DISORDERS, 2016, 26 : S173 - S173
  • [39] AUTOSOMAL RECESSIVE DISTAL MYOPATHY
    ISAACS, H
    BADENHORST, ME
    WHISTLER, T
    JOURNAL OF CLINICAL PATHOLOGY, 1988, 41 (02) : 188 - 194
  • [40] Distal myopathy in nephropathic cystinosis
    U. Vester
    M. Schubert
    G. Offner
    J. Brodehl
    Pediatric Nephrology, 2000, 14 : 36 - 38