scholarly journals Role of mitofusin 2 mutations in the physiopathology of Charcot–Marie–Tooth disease type 2A

2009 ◽  
Vol 218 (2) ◽  
pp. 268-273 ◽  
Author(s):  
Romain Cartoni ◽  
Jean-Claude Martinou
Keyword(s):  
Disease Type ◽  
Mitofusin 2 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A Sporadic Case of Charcot-Marie-Tooth Disease Type 2 with Left Vocal Fold Palsy due to Mitofusin 2 Mutation

2019 ◽  
Vol 58 (14) ◽  
pp. 2091-2093
Author(s):  
Kazuki Kanemaru ◽  
Go Ogawa ◽  
Hitoshi Mochizuki ◽  
Masamitsu Nakazato ◽  
Kazutake Shiomi
Keyword(s):  
Vocal Fold ◽  
Sporadic Case ◽  
Disease Type ◽  
Mitofusin 2 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Vocal Fold Palsy ◽  
Tooth Disease

scholarly journals Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

2011 ◽  
Vol 258 (7) ◽  
pp. 1234-1239 ◽  
Author(s):  
Donald S. McCorquodale ◽  
Gladys Montenegro ◽  
Ainsley Peguero ◽  
Nicole Carlson ◽  
Fiorella Speziani ◽  
...  
Keyword(s):  
Mutation Screening ◽  
Disease Type ◽  
Mitofusin 2 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2

2013 ◽  
Vol 49 (1) ◽  
pp. 145-146 ◽  
Author(s):  
Giorgia Bergamin ◽  
Chiara Dalla Torre ◽  
Mario Cacciavillani ◽  
Marta Lucchetta ◽  
Francesca Boaretto ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Disease Type ◽  
Mitofusin 2 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations

2009 ◽  
Vol 66 (12) ◽  
Author(s):  
Judith Calvo ◽  
Benoît Funalot ◽  
Robert A. Ouvrier ◽  
Leila Lazaro ◽  
Annick Toutain ◽  
...  
Keyword(s):  
Disease Type ◽  
Mitofusin 2 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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