GENETIC VARIABILITY IN THE MYOSTATIN GENE DOES NOT EXPLAIN THE MUSCLE HYPERTROPHY AND CLINICAL PENETRANCE IN MYOTONIA CONGENITA

被引:1
|
作者
Muniz, Viviane P. [1 ]
Senkevics, Adriano S. [1 ]
Zilbersztajn, Dinorah [1 ]
Gurgel-Giannetti, Juliana [2 ]
Silva, Helga C. [3 ,4 ]
Yamamoto, Lydia U. [1 ]
Pavanello, Rita C. M. [1 ]
Pearson, Peter L. [1 ]
Zatz, Mayana [1 ]
Vainzof, Mariz [1 ]
机构
[1] Univ Sao Paulo, Inst Biociencias, Human Genome Res Ctr, Sao Paulo, Brazil
[2] Univ Fed Minas Gerais, Belo Horizonte, MG, Brazil
[3] Univ Fed Sao Paulo, Dept Neurol, UNIFESP, Sao Paulo, Brazil
[4] Univ Fed Sao Paulo, Dept Anesthesiol, UNIFESP, Sao Paulo, Brazil
关键词
MUTATIONS; GDF8;
D O I
10.1002/mus.21548
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:427 / 428
页数:2
相关论文
共 50 条
  • [21] Muscle hypertrophy driven by myostatin blockade does not require stem/precursor-cell activity
    Amthor, Helge
    Otto, Anthony
    Vulin, Adeline
    Rochat, Anne
    Dumonceaux, Julie
    Garcia, Luis
    Mouisel, Etienne
    Hourde, Christophe
    Macharia, Raymond
    Friedrichs, Melanie
    Relaix, Frederic
    Zammit, Peter S.
    Matsakas, Antonios
    Patel, Ketan
    Partridge, Terence
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (18) : 7479 - 7484
  • [22] Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families
    C. de Diego
    J. Gámez
    E. Plassart-Schiess
    A. Lasa
    E. Del Río
    C. Cervera
    M. Baiget
    P. Gallano
    B. Fontaine
    Journal of Neurology, 1999, 246 : 825 - 829
  • [23] Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families
    de Diego, C
    Gámez, J
    Plassart-Schiess, E
    Lasa, A
    Del Río, E
    Cervera, C
    Baiget, M
    Gallano, P
    Fontaine, B
    JOURNAL OF NEUROLOGY, 1999, 246 (09) : 825 - 829
  • [24] Abundance of myostatin gene transcripts and their correlation with muscle hypertrophy during the development of barramundi, Lates calcarifer
    de Santis, Christian
    Gomes, Giana B.
    Jerry, Dean R.
    COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY B-BIOCHEMISTRY & MOLECULAR BIOLOGY, 2012, 163 (01): : 101 - 107
  • [25] Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita
    Zhang, J
    George, AL
    Griggs, RC
    Fouad, GT
    Roberts, J
    Kwiecinski, H
    Connolly, AM
    Ptacek, LJ
    NEUROLOGY, 1996, 47 (04) : 993 - 998
  • [26] SKELETAL MUSCLE CHLORIDE CHANNEL GENE (CLCN1) COPY NUMBER VARIATION CAN CAUSE MYOTONIA CONGENITA
    Rayan, D. Raja
    Haworth, A.
    Sud, R.
    Matthews, E.
    Fialho, D.
    Burge, J.
    Portaro, S.
    Toscano, A.
    Davis, M. D.
    Hanna, M. G.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2012, 83 (03):
  • [27] Does clinical presentation explain practice variability in the treatment of febrile infants?
    Bergman, DA
    Mayer, ML
    Pantell, RH
    Finch, SA
    Wasserman, RC
    PEDIATRICS, 2006, 117 (03) : 787 - 795
  • [28] Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family
    SloanBrown, K
    George, AL
    NEUROLOGY, 1997, 48 (02) : 542 - 543
  • [29] Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
    Melodie Aubart
    Steven Gazal
    Pauline Arnaud
    Louise Benarroch
    Marie-Sylvie Gross
    Julien Buratti
    Anne Boland
    Vincent Meyer
    Habib Zouali
    Nadine Hanna
    Olivier Milleron
    Chantal Stheneur
    Thomas Bourgeron
    Isabelle Desguerre
    Marie-Paule Jacob
    Laurent Gouya
    Emmanuelle Génin
    Jean-François Deleuze
    Guillaume Jondeau
    Catherine Boileau
    European Journal of Human Genetics, 2018, 26 : 1759 - 1772
  • [30] Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
    Aubart, M.
    Gazal, S.
    Arnaud, P.
    Benarroch, L.
    Gross, M.
    Buratti, J.
    Boland, A.
    Meyer, V.
    Hanna, N.
    Milleron, O.
    Stheneur, C.
    Zouali, H.
    Bourgeron, T.
    Desguerre, I.
    Jacob, M.
    Gouya, L.
    Genin, E.
    Deleuze, J.
    Jondeau, G.
    Boileau, C.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 845 - 846