Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation.

1998 ◽  
Author(s):  
L Leonardis ◽  
J Zidar ◽  
A Ekici ◽  
B Peterlin ◽  
B Rautenstrauss
Keyword(s):  
Point Mutation ◽  
Autosomal Dominant ◽  
Disease Type ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Pressure Palsies ◽  
Tooth Disease

PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A

Neurology ◽  
1998 ◽  
Vol 50 (3) ◽  
pp. 760-763 ◽  
Author(s):  
P. Young ◽  
F. Stogbauer ◽  
H. Wiebusch ◽  
A. Lofgren ◽  
V. Timmerman ◽  
...  
Keyword(s):  
Disease Type ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Pressure Palsies ◽  
Tooth Disease

scholarly journals PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

2014 ◽  
Vol 9 (1) ◽  
pp. 38 ◽  
Author(s):  
Barbara W van Paassen ◽  
Anneke J van der Kooi ◽  
Karin Y van Spaendonck-Zwarts ◽  
Camiel Verhamme ◽  
Frank Baas ◽  
...  
Keyword(s):  
Disease Type ◽  
Hereditary Neuropathy ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Pressure Palsies ◽  
Tooth Disease
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