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 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

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

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

scholarly journals Rapid detection of a recombinant hotspot associated with Charcot–Marie–Tooth disease type 1A duplication by a PCR-based DNA test

1998 ◽  
Vol 44 (2) ◽  
pp. 270-274 ◽  
Author(s):  
Jan-Gowth Chang ◽  
Yuh-Jyh Jong ◽  
Wen-Pin Wang ◽  
Jyh-Chwan Wang ◽  
Chaur-Jong Hu ◽  
...  
Keyword(s):  
Rapid Detection ◽  
Disease Type ◽  
Chinese Patients ◽  
Charcot Marie Tooth ◽  
Dna Test ◽  
Charcot Marie Tooth Disease ◽  
Repeat Sequences ◽  
Tooth Disease

Abstract A 1.5-Mb duplication on chromosome 17p11.2-p12 (CMT1A duplication) caused by a misalignment of the CMT1A repeat sequences (CMT1A-REPs) is associated with Charcot–Marie–Tooth disease type 1A (CMT1A). A hotspot of crossover breakpoints located in a 3.2-kb region of the CMT1A-REPs accounts for three-quarters of the rearrangements in CMT1A patients. We developed a PCR-based diagnostic method to detect a recombination hotspot associated with the CMT1A duplication. Thirty-one CMT1A Chinese patients from different families and 50 healthy people over 65 years of age were studied. Twenty-seven of the 31 cases demonstrated the 3.2-kb hotspot crossover, of which there were two subgroups. The type 1 crossover breakpoint was located at the distal CMT1A-REP around the PmeI site, and accounted for 24 of the 27 cases with a 3.2-kb hotspot crossover in CMT1A duplication patients. The type 2 crossover breakpoint was located at the distal CMT1A-REP around the base 3625 region, accounting for 3 of the 27 cases. The results correlated very well with the results of Southern transfer analysis. This study has a potentially important role in the diagnosis of CMT1A disease.

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