Autosomal Recessive Axonal Form of Charcot-Marie-Tooth Disease Caused by Compound Heterozygous 3′-Splice Site and Ser130Cys Mutation in theGDAP1Gene

2005 ◽  
Vol 36 (3) ◽  
pp. 206-209 ◽  
Author(s):  
D. Kabzińska ◽  
A. Kochański, ◽  
H. Drac ◽  
B. Ryniewicz ◽  
K. Rowińska-Marcińska ◽  
...  
Keyword(s):  
Splice Site ◽  
Autosomal Recessive ◽  
Compound Heterozygous ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A homozygous SH3TC2 mutation in a Korean patient with Charcot–Marie–Tooth disease type 4C

2021 ◽  
Vol 26 (4) ◽  
pp. 835-837
Author(s):  
Je-Young Shin ◽  
Jong-Mok Lee
Keyword(s):  
Autosomal Recessive ◽  
Disease Type ◽  
Compound Heterozygous ◽  
Limb Weakness ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Slow Conduction ◽  
Whole Exome ◽  
Dependent Probe ◽  
Tooth Disease

Charcot–Marie–Tooth disease type 4C (CMT4C) is an autosomal recessive neuropathy associated with SH3TC2 mutations, resulting in slow conduction velocity via hypomyelination. The occurrence of CMT4C in demyelinating Charcot–Marie–Tooth (CMT) varies among ethnicities, and several variants have been reported as the founder mutation. In Korea, the incidence of CMT4C was calculated as approximately 2%, and all patients have compound heterozygous mutations, which is partly due to the prohibition of consanguineous marriage. Herein, we describe a 25-year-old male who presented a slowly progressive limb weakness and impaired vibration sensation. Whole-exome sequencing revealed homozygous variants c.929G>A of SH3TC2 after identifying negative multiplex ligation-dependent probe amplification results of PMP22. Based on our literature review, this is the first CMT4C patient with a homozygous variant with each allele inherited from both the parents.

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

Compound heterozygous mutations of SH3TC2 in Charcot–Marie–Tooth disease type 4C patients

2019 ◽  
Vol 64 (9) ◽  
pp. 961-965 ◽  
Author(s):  
Ah Jin Lee ◽  
Soo Hyun Nam ◽  
Jin-Mo Park ◽  
Sumaira Kanwal ◽  
Yu Jin Choi ◽  
...  
Keyword(s):  
Disease Type ◽  
Compound Heterozygous ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Compound Heterozygous Mutations ◽  
Tooth Disease

Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies)

2006 ◽  
Vol 21 (1) ◽  
pp. 20-25 ◽  
Author(s):  
Velina Guergueltcheva ◽  
Ivailo Tournev ◽  
Veneta Bojinova ◽  
Janina Hantke ◽  
Ivan Litvinenko ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3

2001 ◽  
Vol 68 (1) ◽  
pp. 269-274 ◽  
Author(s):  
Alejandro Leal ◽  
Bernal Morera ◽  
Gerardo Del Valle ◽  
Dieter Heuss ◽  
Corinna Kayser ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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