scholarly journals Novel mutation in the membrane metalloendopeptidase gene in a patient with the autosomal recessive form of Charcot-Marie-Tooth disease

2017 ◽  
Vol 5 (4) ◽  
pp. 124-126
Author(s):  
Hiroyuki Ishiura ◽  
Jun Mitsui ◽  
Jun Yoshimura ◽  
Koichiro Doi ◽  
Shinichi Morishita ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Autosomal Recessive Form ◽  
Recessive Form ◽  
Tooth Disease

Identification of a New Locus for Autosomal Recessive Charcot–Marie–Tooth Disease with Focally Folded Myelin on Chromosome 11p15

Genomics ◽  
1999 ◽  
Vol 62 (3) ◽  
pp. 344-349 ◽  
Author(s):  
Kamel Ben Othmane ◽  
Ellen Johnson ◽  
Marisa Menold ◽  
Felicia L. Graham ◽  
Mongi Ben Hamida ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Chromosome 11P15 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Charcot–Marie–Tooth Disease Associated With a Novel Mutation in MFN2 Presenting With Subacute Vision Loss

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Yafeng Li ◽  
Tomas S. Aleman ◽  
Colin C. Quinn ◽  
Tian Xia ◽  
Charles G. Miller ◽  
...  
Keyword(s):  
Vision Loss ◽  
Novel Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B

2006 ◽  
Vol 16 (3) ◽  
pp. 183-187 ◽  
Author(s):  
Gian Maria Fabrizi ◽  
Maria Pellegrini ◽  
Chiara Angiari ◽  
Tiziana Cavallaro ◽  
Alberto Morini ◽  
...  
Keyword(s):  
Gene Dosage ◽  
Novel Mutation ◽  
Disease Type ◽  
Intracellular Domain ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease ◽  
Dosage Sensitivity
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