Autosomal recessive syndromic and non-syndromic arrhythmogenic right ventricular cardiomyopathy (ARVC): Clinical and molecular differences compared to the common dominant form

被引：0
|
作者：
Wollnik, Bernd [1 ,2 ]
机构：
[1] Univ Cologne, Inst Human Genet, D-5000 Cologne 41, Germany
[2] Univ Cologne, CMMC, D-5000 Cologne 41, Germany
来源：
EUROPEAN JOURNAL OF CELL BIOLOGY | 2008年 / 87卷 / 07期
关键词：
D O I：
暂无
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
引用
收藏
页码：438 / 438
页数：1
相关论文
共 27 条
  • [21] A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene
    Tamagawa, Y
    Kitamura, K
    Ishida, T
    Ishikawa, K
    Tanaka, H
    Tsuji, S
    Nishizawa, M
    HUMAN MOLECULAR GENETICS, 1996, 5 (06) : 849 - 852
  • [22] Simultaneous Occurence of an Autosomal Dominant Inherited MSX1 Mutation and an X-linked Recessive Inherited EDA Mutation in One Chinese Family with Non-syndromic Oligodontia
    Zhang, Xiao Xia
    Wong, Sing Wai
    Han, Dong
    Feng, Hai Lan
    CHINESE JOURNAL OF DENTAL RESEARCH, 2015, 18 (04): : 229 - 234
  • [23] Identification and clinical implications of a novel pathogenic variant in the GJB2 gene causes autosomal recessive non-syndromic hearing loss in a consanguineous Iranian family
    Koohiyan, Mahbobeh
    INTRACTABLE & RARE DISEASES RESEARCH, 2020, 9 (01) : 30 - 34
  • [24] Arrhythmogenic right ventricular cardiomyopathy patients with desmoglein-2 variants are characterized by recessive inheritance and progressive heart failure:clinical and genetic features of a Chinese ARVC cohort
    Kai Chen
    Jiangping Song
    Shengshou Hu
    中国循环杂志, 2018, (S1) : 139 - 139
  • [25] GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation
    Abidi, Omar
    Boulouiz, Redouane
    Nahili, Halima
    Ridal, Mohammed
    Alami, Mohamed Noureddine
    Tlili, Abdelaziz
    Rouba, Hassan
    Masmoudi, Saber
    Chafik, Abdelaziz
    Hassar, Mohammed
    Barakat, Abdelhamid
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2007, 71 (08) : 1239 - 1245
  • [26] Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management
    Goudal, Adeline
    Karakachoff, Matilde
    Lindenbaum, Pierre
    Baron, Estelle
    Bonnaud, Stephanie
    Kyndt, Florence
    Arnaud, Marine
    Minois, Damien
    Bourcereau, Emmanuelle
    Thollet, Aurelie
    Deleuze, Jean-Francois
    Genin, Emmanuelle
    Wiart, Francois
    Pasquie, Jean-Luc
    Galand, Vincent
    Sacher, Frederic
    Dina, Christian
    Redon, Richard
    Bezieau, Stephane
    Schott, Jean-Jacques
    Probst, Vincent
    Barc, Julien
    HUMAN MUTATION, 2022, 43 (09) : 1333 - 1342
  • [27] Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran:: Simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness
    Esmaeili, Mohsen
    Bonyadi, Mortaza
    Nejadkazem, Mohammad
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2007, 71 (06) : 869 - 873
123