Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins]

1999 ◽  
Vol 14 (5) ◽  
pp. 449-449 ◽  
Author(s):  
Nisrine Bissar-Tadmouri ◽  
Yesim Gulsen-Parman ◽  
Philippe Latour ◽  
Feza Deymeer ◽  
Piraye Serdaroglu ◽  
...  
Keyword(s):  
Coding Region ◽  
Novel Mutations ◽  
Charcot Marie Tooth ◽  
Turkish Origin ◽  
Gene Coding ◽  
Tooth Type

scholarly journals Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin : T55I, R164Q, V120E

1999 ◽  
Vol 13 (4) ◽  
pp. 339-339 ◽  
Author(s):  
Charalampos Karadimas ◽  
Marios Panas ◽  
Penelope Chronopoulou ◽  
Dimitrios Avramopoulos ◽  
Demetrios Vassilopoulos
Keyword(s):  
Gap Junction ◽  
Coding Region ◽  
Novel Mutations ◽  
Charcot Marie Tooth ◽  
Gene Coding

17p11.2 Duplication Is a Common Finding in Sporadic Cases of Charcot-Marie-Tooth Type 1

1994 ◽  
Vol 34 (3) ◽  
pp. 135-139 ◽  
Author(s):  
G.L. Mancardi ◽  
A. Uccelli ◽  
E. Bellone ◽  
A. Sghirlanzoni ◽  
P. Mandich ◽  
...  
Keyword(s):  
Common Finding ◽  
Charcot Marie Tooth ◽  
Sporadic Cases ◽  
Tooth Type

scholarly journals Novel mutations involving the NF1 gene coding sequence in neurofibromatosis type 1 patients from Taiwan

2003 ◽  
Vol 48 (10) ◽  
pp. 545-549 ◽  
Author(s):  
Ming-Tzen Liu ◽  
Jih-Shyun Su ◽  
Chun-Yu Huang ◽  
Shih-Feng Tsai
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Novel Mutations ◽  
Coding Sequence ◽  
Gene Coding ◽  
Nf1 Gene

A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease

2000 ◽  
Vol 21 (2) ◽  
pp. 109-112 ◽  
Author(s):  
G. Di Iorio ◽  
V. Cappa ◽  
A. Ciccodicola ◽  
S. Sampaolo ◽  
A. Ammendola ◽  
...  
Keyword(s):  
De Novo ◽  
De Novo Mutation ◽  
Connexin 32 ◽  
Charcot Marie Tooth ◽  
Tooth Type

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A

2009 ◽  
Vol 19 (7) ◽  
pp. 476-480 ◽  
Author(s):  
Isabella Moroni ◽  
Michela Morbin ◽  
Micaela Milani ◽  
Claudia Ciano ◽  
Marianna Bugiani ◽  
...  
Keyword(s):  
Early Onset ◽  
Novel Mutations ◽  
Charcot Marie Tooth ◽  
Tooth Type

scholarly journals A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.

2009 ◽  
Vol 56 (4) ◽  
Author(s):  
Izabela Moszyńska ◽  
Dagmara Kabzińska ◽  
Elena Sinkiewicz-Darol ◽  
Andrzej Kochański
Keyword(s):  
Point Mutations ◽  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Charcot Marie Tooth ◽  
Tooth Type ◽  
Pressure Palsies ◽  
Atypical Phenotype

Hereditary neuropathy with liability to pressure palsies (HNPP) is manifested by a spectrum of phenotypes, from the classical HNPP course associated with intermittent nerve palsies to a neuropathy resembling Charcot-Marie-Tooth type 1 (CMT1) disease. The majority of HNPP cases are associated with submicroscopical deletions in the 17p11.2-p12 region containing the PMP22 gene, while PMP22 point mutations are rare, representing about 15% of HNPP cases. In this study, we present a patient manifesting with atypical HNPP phenotype associated with a new Thr99fsX110 mutation in the PMP22 gene. We conclude that all patients who fulfill the electrophysiological criteria of HNPP, even if they lack the typical HNPP phenotype, should be tested for point mutations in the PMP22 gene.

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