De novo mutation (Arg98→Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot–Marie–Tooth disease type 1B

1997 ◽  
Vol 149 (1) ◽  
pp. 103-109 ◽  
Author(s):  
Atsushi Komiyama ◽  
Akio Ohnishi ◽  
Katsuhiko Izawa ◽  
Shunji Yamamori ◽  
Hirofumi Ohashi ◽  
...  
Keyword(s):  
Myelin Sheath ◽  
De Novo ◽  
Disease Type ◽  
De Novo Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Dense Line ◽  
Tooth Disease

De novo mutation of Charcot-Marie-Tooth disease type IA

1997 ◽  
Vol 17 (1) ◽  
pp. 67-69
Author(s):  
Nobutada Tachi ◽  
Naoki Kozuka ◽  
Kazuhiro Ohya ◽  
Shunzo Chiba
Keyword(s):  
De Novo ◽  
Disease Type ◽  
De Novo Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Type Ia ◽  
Tooth Disease

scholarly journals MORC2 gene de novo mutation leads to Charcot–Marie–Tooth disease type 2Z

Medicine ◽  
2021 ◽  
Vol 100 (37) ◽  
pp. e27208
Author(s):  
Haiyan Yang ◽  
Sai Yang ◽  
Qingyun Kang ◽  
Liming Yang ◽  
Hongmei Liao ◽  
...  
Keyword(s):  
De Novo ◽  
Disease Type ◽  
De Novo Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Confirmation of the GNB4 gene as causal for Charcot–Marie–Tooth disease by a novel de novo mutation in a Czech patient

2017 ◽  
Vol 27 (1) ◽  
pp. 57-60 ◽  
Author(s):  
Petra Laššuthová ◽  
Dana Šafka Brožková ◽  
Jana Neupauerová ◽  
Marcela Krůtová ◽  
Radim Mazanec ◽  
...  
Keyword(s):  
De Novo ◽  
De Novo Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Czech Patient ◽  
Tooth Disease

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1993 ◽  
Vol 2 (12) ◽  
pp. 2031-2035 ◽  
Author(s):  
Francisco Palau ◽  
Ann Löfgren ◽  
Peter De Jonghe ◽  
Sylvia Bort ◽  
Eva Nelis ◽  
...  
Keyword(s):  
De Novo ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication

2008 ◽  
Vol 46 (4) ◽  
pp. 291-294 ◽  
Author(s):  
Jens Michael Hertz ◽  
Anders D. Børglum ◽  
Carsten A. Brandt ◽  
Tracey Flint ◽  
Carsten Bisgaard
Keyword(s):  
De Novo ◽  
Disease Type ◽  
Parental Origin ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene

Neurology ◽  
2006 ◽  
Vol 67 (8) ◽  
pp. 1476-1478 ◽  
Author(s):  
F. Meggouh ◽  
H.M.E. Bienfait ◽  
M. A.J. Weterman ◽  
M. de Visser ◽  
F. Baas
Keyword(s):  
De Novo ◽  
De Novo Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.

1998 ◽  
Vol 35 (3) ◽  
pp. 251-252 ◽  
Author(s):  
F Meggouh ◽  
A Benomar ◽  
H Rouger ◽  
S Tardieu ◽  
N Birouk ◽  
...  
Keyword(s):  
De Novo ◽  
De Novo Mutation ◽  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Two de novo mutations of MFN2 associated with early-onset Charcot-Marie-Tooth disease type 2A neuropathy

2012 ◽  
Vol 34 (6) ◽  
pp. 653-661 ◽  
Author(s):  
Khriezhanuo Nakhro ◽  
Ye Jin Kim ◽  
Ja Hyun Lee ◽  
Heasoo Koo ◽  
Byung-Ok Choi ◽  
...  
Keyword(s):  
Early Onset ◽  
De Novo ◽  
Disease Type ◽  
De Novo Mutations ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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