scholarly journals PMP22 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Gene ◽  
1999 ◽  
Vol 234 (2) ◽  
pp. 267-274 ◽  
Author(s):  
E. Agostoni ◽  
S. Gobessi ◽  
C. Brancolini ◽  
C. Schneider

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 ◽  
...  

2017 ◽  
Vol 43 (1) ◽  
Author(s):  
Carlo Fusco ◽  
Carlotta Spagnoli ◽  
Grazia Gabriella Salerno ◽  
Elena Pavlidis ◽  
Daniele Frattini ◽  
...  

2009 ◽  
Vol 17 (9) ◽  
pp. 1154-1159 ◽  
Author(s):  
Gabriel Miltenberger-Miltenyi ◽  
Thomas Schwarzbraun ◽  
Wolfgang N Löscher ◽  
Julia Wanschitz ◽  
Christian Windpassinger ◽  
...  

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Kwo Wei David Ho ◽  
Nivedita U. Jerath

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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