Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement

2017 ◽  
Vol 57 (2) ◽  
pp. 330-334 ◽  
Author(s):  
Jean-Baptiste Noury ◽  
Thierry Maisonobe ◽  
Pascale Richard ◽  
Valérie Delague ◽  
Edoardo Malfatti ◽  
...  
Keyword(s):  
Cardiac Involvement ◽  
Axonal Neuropathy ◽  
Gene Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Rigid Spine Syndrome ◽  
Sensory Motor ◽  
Tooth Disease

Dysmyelinating and demyelinating Charcot–Marie–Tooth disease associated with two myelin protein zero gene mutations

2010 ◽  
Vol 52 (2) ◽  
pp. 177-183 ◽  
Author(s):  
Hanna Drac ◽  
Dagmara Kabzińska ◽  
Izabela Moszyńska ◽  
Halina Strugalska-Cynowska ◽  
Irena Hausmanowa-Petrusewicz ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Myelin Protein ◽  
Myelin Protein Zero ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Protein Zero ◽  
Tooth Disease

scholarly journals Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

2008 ◽  
Vol 53 (6) ◽  
pp. 529-533 ◽  
Author(s):  
Paola Mandich ◽  
Marina Grandis ◽  
Alessandro Geroldi ◽  
Massimo Acquaviva ◽  
Alessandra Varese ◽  
...  
Keyword(s):  
Gap Junction ◽  
Gene Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Myelin protein zero gene mutations in Taiwanese patients with Charcot–Marie–Tooth disease type 1

2004 ◽  
Vol 219 (1-2) ◽  
pp. 95-100 ◽  
Author(s):  
Yi-Chung Lee ◽  
Bing-Wen Soong ◽  
Kon-Ping Lin ◽  
Hsiang-Ying Lee ◽  
Zin-An Wu ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Disease Type ◽  
Myelin Protein ◽  
Myelin Protein Zero ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Protein Zero ◽  
Tooth Disease

scholarly journals Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)

2016 ◽  
Vol 21 (3) ◽  
pp. 142-149 ◽  
Author(s):  
Giuseppe Piscosquito ◽  
Paola Saveri ◽  
Stefania Magri ◽  
Claudia Ciano ◽  
Claudia Gandioli ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

1996 ◽  
Vol 7 (1) ◽  
pp. 36-45 ◽  
Author(s):  
Benjamin B. Roa ◽  
Laura E. Warner ◽  
Carlos A. Garcia ◽  
Donna Russo ◽  
Robert Lovelace ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Myelin Protein ◽  
Myelin Protein Zero ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Protein Zero ◽  
Tooth Disease

Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease

2010 ◽  
Vol 14 (1) ◽  
pp. 3-7 ◽  
Author(s):  
Dana Brožková ◽  
Radim Mazanec ◽  
Jana Haberlová ◽  
Iva Sakmaryová ◽  
Ivan Šubrt ◽  
...  
Keyword(s):  
Gap Junction ◽  
Phenotypic Expression ◽  
Gene Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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