Early onset demyelinating Charcot‐Marie‐Tooth disease caused by a novel in‐frame isoleucine deletion in peripheral myelin protein 2

2020 ◽  
Vol 25 (2) ◽  
pp. 102-106 ◽  
Author(s):  
Alessandro Geroldi ◽  
Valeria Prada ◽  
Francesca Veneri ◽  
Lucia Trevisan ◽  
Paola Origone ◽  
...  
Keyword(s):  
Early Onset ◽  
Myelin Protein ◽  
Peripheral Myelin Protein ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A

1992 ◽  
Vol 1 (3) ◽  
pp. 159-165 ◽  
Author(s):  
Pragna I. Patel ◽  
Benjamin B. Roa ◽  
Andrew A. Welcher ◽  
Raymond Schoener-Scott ◽  
Barbara J. Trask ◽  
...  
Keyword(s):  
Disease Type ◽  
Myelin Protein ◽  
Peripheral Myelin Protein ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication

1992 ◽  
Vol 1 (3) ◽  
pp. 171-175 ◽  
Author(s):  
V. Timmerman ◽  
E. Nelis ◽  
W. Van Hul ◽  
B.W. Nieuwenhuijsen ◽  
K.L. Chen ◽  
...  
Keyword(s):  
Protein Gene ◽  
Disease Type ◽  
Myelin Protein ◽  
Peripheral Myelin Protein ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot–Marie–Tooth disease type 1B

1993 ◽  
Vol 5 (1) ◽  
pp. 35-39 ◽  
Author(s):  
Tanja Kulkens ◽  
Pieter A. Bolhuis ◽  
Ruud A. Wolterman ◽  
Stephan Kemp ◽  
Saskia te Nijenhuis ◽  
...  
Keyword(s):  
Disease Type ◽  
Myelin Protein ◽  
Peripheral Myelin Protein ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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