A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis

2014 ◽  
Vol 19 (2) ◽  
pp. 175-179 ◽  
Author(s):  
Hyung J. Park ◽  
Hye J. Kim ◽  
Young B. Hong ◽  
Soo H. Nam ◽  
Ki W. Chung ◽  
...  
Keyword(s):  
Focal Segmental Glomerulosclerosis ◽  
Autosomal Dominant ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Korean Family ◽  
Segmental Glomerulosclerosis ◽  
Tooth Disease

INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis

2013 ◽  
Vol 18 (1) ◽  
pp. 97-98 ◽  
Author(s):  
Kentaro Toyota ◽  
Daisuke Ogino ◽  
Makiko Hayashi ◽  
Masashi Taki ◽  
Kayoko Saito ◽  
...  
Keyword(s):  
Focal Segmental Glomerulosclerosis ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Segmental Glomerulosclerosis ◽  
Tooth Disease

scholarly journals A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

2001 ◽  
Vol 9 (8) ◽  
pp. 646-650 ◽  
Author(s):  
ShoukhratM Ismailov ◽  
ValeriyP Fedotov ◽  
ElenaL Dadali ◽  
AlexanderV Polyakov ◽  
Christine Van Broeckhoven ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

P3.23 Characterization of a new mutation in the GADP1 gene causing axonal autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

2011 ◽  
Vol 21 (9-10) ◽  
pp. 688-689
Author(s):  
M. Guijarro ◽  
P. Blanco-Arias ◽  
J. Pardo ◽  
C. Concheiro-Álvarez ◽  
B. San Millán ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
New Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

2010 ◽  
Vol 15 (4) ◽  
pp. 334-344 ◽  
Author(s):  
Rafael Sivera ◽  
Carmen Espinós ◽  
Juan J. Vílchez ◽  
Fernando Mas ◽  
Dolores Martínez-Rubio ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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