scholarly journals PMP22 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Pmp22 Gene

Identification and characterization of a new member of the gas3/PMP22 gene family in C. elegans

Gene ◽  
1999 ◽  
Vol 234 (2) ◽  
pp. 267-274 ◽  
Author(s):  
E. Agostoni ◽  
S. Gobessi ◽  
C. Brancolini ◽  
C. Schneider
Keyword(s):  
Gene Family ◽  
Pmp22 Gene ◽  
C Elegans ◽  
Identification And Characterization

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype

2004 ◽  
Vol 14 (5) ◽  
pp. 313-320 ◽  
Author(s):  
K.T Abe ◽  
A.M.M Lino ◽  
M.T.A Hirata ◽  
R.C.M Pavanello ◽  
M.W.I Brotto ◽  
...  
Keyword(s):  
Stop Codon ◽  
Pmp22 Gene ◽  
Stop Codon Mutation ◽  
Variable Phenotype ◽  
Codon Mutation

scholarly journals Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene

2017 ◽  
Vol 43 (1) ◽  
Author(s):  
Carlo Fusco ◽  
Carlotta Spagnoli ◽  
Grazia Gabriella Salerno ◽  
Elena Pavlidis ◽  
Daniele Frattini ◽  
...  
Keyword(s):  
Point Mutation ◽  
Hereditary Neuropathy ◽  
Pmp22 Gene ◽  
Pressure Palsy

scholarly journals Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

2009 ◽  
Vol 17 (9) ◽  
pp. 1154-1159 ◽  
Author(s):  
Gabriel Miltenberger-Miltenyi ◽  
Thomas Schwarzbraun ◽  
Wolfgang N Löscher ◽  
Julia Wanschitz ◽  
Christian Windpassinger ◽  
...  
Keyword(s):  
In Silico ◽  
Gene Mutations ◽  
In Silico Analysis ◽  
Pmp22 Gene ◽  
Silico Analysis

scholarly journals T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Kwo Wei David Ho ◽  
Nivedita U. Jerath
Keyword(s):  
Peripheral Neuropathy ◽  
Autosomal Recessive ◽  
Clinical Effect ◽  
Case Series ◽  
Pmp22 Gene ◽  
Loss Of Function ◽  
Review Of The Literature ◽  
Partial Loss ◽  
Charcot Marie Tooth ◽  
Electrophysiological Studies

The clinical effect of T118M variant of the PMP22 gene has been controversial. Several studies have suggested that it may be autosomal recessive, partial loss of function, or a benign variant. Here we report three cases in further support that the T118M variant of the PMP22 gene is a partial loss of function variant. These three unrelated cases were heterozygotes with the T118M variant of the PMP22 gene. All three cases presented with painful peripheral neuropathy and varying degrees of Charcot-Marie-Tooth exam features. Electrophysiological studies revealed polyneuropathy with axonal and demyelinating features in one case, but there were minimal electrophysiological changes in the other two cases. We propose that the T118M variant can cause painful peripheral neuropathy, which may be an underrecognized feature of this variant.

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