X-linked Charcot-Marie-Tooth disease: Phenotypic expression of a novel mutation Ile127Ser in theGJB1 (connexin 32) gene

2005 ◽  
Vol 31 (2) ◽  
pp. 252-255 ◽  
Author(s):  
Petr Vondracek ◽  
Pavel Seeman ◽  
Marketa Hermanova ◽  
Lenka Fajkusova
Keyword(s):  
Novel Mutation ◽  
Phenotypic Expression ◽  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance

1997 ◽  
Vol 100 (3-4) ◽  
pp. 391-397 ◽  
Author(s):  
K. Silander ◽  
P�ivi Meretoja ◽  
Helena Pihko ◽  
Vesa Juvonen ◽  
Jouni Issakainen ◽  
...  
Keyword(s):  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Pathogenesis of X-Linked Charcot-Marie-Tooth Disease: Differential Effects of Two Mutations in Connexin 32

2003 ◽  
Vol 23 (33) ◽  
pp. 10548-10558 ◽  
Author(s):  
Charles K. Abrams ◽  
Mona Freidin ◽  
Feliksas Bukauskas ◽  
Kostantin Dobrenis ◽  
Thaddeus A. Bargiello ◽  
...  
Keyword(s):  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Differential Effects ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Charcot–Marie–Tooth Disease Associated With a Novel Mutation in MFN2 Presenting With Subacute Vision Loss

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Yafeng Li ◽  
Tomas S. Aleman ◽  
Colin C. Quinn ◽  
Tian Xia ◽  
Charles G. Miller ◽  
...  
Keyword(s):  
Vision Loss ◽  
Novel Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B

2006 ◽  
Vol 16 (3) ◽  
pp. 183-187 ◽  
Author(s):  
Gian Maria Fabrizi ◽  
Maria Pellegrini ◽  
Chiara Angiari ◽  
Tiziana Cavallaro ◽  
Alberto Morini ◽  
...  
Keyword(s):  
Gene Dosage ◽  
Novel Mutation ◽  
Disease Type ◽  
Intracellular Domain ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease ◽  
Dosage Sensitivity

A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease

2018 ◽  
Vol 23 (1) ◽  
pp. 55-59 ◽  
Author(s):  
Guohua Zhao ◽  
Jie Song ◽  
Mi Yang ◽  
Xiuhua Song ◽  
Xiaomin Liu
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance

BMC Neurology ◽  
2014 ◽  
Vol 14 (1) ◽  
Author(s):  
Maik Engeholm ◽  
Julia Sekler ◽  
David C Schöndorf ◽  
Vineet Arora ◽  
Jens Schittenhelm ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Dominant Inheritance ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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