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
来源：
MUSCLE & NERVE | 2010年 / 41卷 / 03期
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
  • [11] Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)
    Coote, David J.
    Davis, Mark R.
    Cabrera, Macarena
    Needham, Merrilee
    Laing, Nigel G.
    Nowak, Kristen J.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 (07) : 1072 - 1077
  • [12] Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)
    David J. Coote
    Mark R. Davis
    Macarena Cabrera
    Merrilee Needham
    Nigel G. Laing
    Kristen J. Nowak
    European Journal of Human Genetics, 2018, 26 : 1072 - 1077
  • [13] Gross muscle hypertrophy in whippet dogs is caused by a mutation in the myostatin gene
    Shelton, G. Diane
    Engvall, Eva
    NEUROMUSCULAR DISORDERS, 2007, 17 (9-10) : 721 - 722
  • [14] DYSTROPHIA MYOTONICA AND MYOTONIA CONGENITA CONCURRING IN ONE FAMILY - A CLINICAL AND GENETIC-STUDY
    HOWELER, CJ
    BUSCH, HFM
    BERNINI, LF
    VANLOGHEM, E
    KHAN, PM
    NIJENHUIS, LE
    BRAIN, 1980, 103 (SEP) : 497 - 513
  • [15] Results of a United Kingdom-wide clinical and molecular genetic study of myotonia congenita
    Davies, NP
    Eunson, LH
    Hanna, MG
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2002, 72 (01): : 137 - 137
  • [16] PARAMYOTONIA CONGENITA WITHOUT COLD PARALYSIS AND MYOTONIA LEVIOR - GENETIC AND CLINICAL-STUDY
    BRUNGGER, U
    KAESER, HE
    EUROPEAN NEUROLOGY, 1977, 15 (01) : 2 - 4
  • [17] Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance
    Plassart-Schiess, E
    Gervais, A
    Eymard, B
    Lagueny, A
    Pouget, J
    Warter, JM
    Fardeau, M
    Jentsch, TJ
    Fontaine, B
    NEUROLOGY, 1998, 50 (04) : 1176 - 1179
  • [18] MYOSTATIN GENE POLYMORPHISMS DO NOT DETERMINE MUSCLE HYPERTROPHY IN BUFFALOES: A CASE REPORT
    Alves, Jackeline Santos
    Rolim-Filho, Sebastiao Tavares
    Tonhati, Humberto
    Costar, Raphael Bermal
    de Camargo, Gregorio Miguel Ferreira
    BUFFALO BULLETIN, 2024, 43 (03): : 377 - 380
  • [19] Phenotypic variability of myotonia congenita in Lithuanian three generation family with heterozygous mutation in CLCN1 gene
    Cimbalistiene, L.
    Morkuniene, A.
    Vaitkevicius, A.
    Praninskiene, R.
    Ambrozaityte, L.
    Utkus, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 437 - 438
  • [20] First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features
    Andres Olave-Rodriguez, Jorge
    Javier Bonilla-Escobar, Francisco
    Candelo, Estephania
    Ximena Rodriguez-Rojas, Lisa
    APPLICATION OF CLINICAL GENETICS, 2021, 14 : 473 - 479
12345