| dc.creator |
TAN, MELİHA |
|
| dc.creator |
Sahin, Nilüfer |
|
| dc.creator |
KARAGÜZEL, AH |
|
| dc.creator |
Calapoglu, Mustafa |
|
| dc.creator |
KALAY, ERSAN |
|
| dc.date |
2003-05-31T21:00:00Z |
|
| dc.date.accessioned |
2020-10-06T11:01:28Z |
|
| dc.date.available |
2020-10-06T11:01:28Z |
|
| dc.identifier |
b5e345d5-84fc-4aa4-ba5a-bea376a148d2 |
|
| dc.identifier |
10.1080/00207450390200972 |
|
| dc.identifier |
https://avesis.sdu.edu.tr/publication/details/b5e345d5-84fc-4aa4-ba5a-bea376a148d2/oai |
|
| dc.identifier.uri |
http://acikerisim.sdu.edu.tr/xmlui/handle/123456789/70016 |
|
| dc.description |
In the present work, we describe a large Turkish family (N=39) with Charcot-Marie-Tooth disease, which is the most commonly inherited peripheral neuropathy. The subjects were from four generations, including six hemizygote patients and nine heterozygote carrier females: Symptoms appeared in late childhood in males (mean age=13.5) but later in carrier females (mean age=33.5). The peripheral nerve conduction was more severely affected in males than females. Genomic DNA was isolated from peripheral white blood cells. Using SSCP technique (single strand conformation polymorphism analysis); abnormal patterns of migration were observed in 15 subjects: 6 of them were hemizygote males and 9 were heterozygote carrier females. We identified a mutation of the Cx32 gene, consisting of a guanine to adenine transition at position 271 (271 G-A). The results suggested relations between degenerative processes and position of Cx32 mutations. |
|
| dc.language |
eng |
|
| dc.rights |
info:eu-repo/semantics/closedAccess |
|
| dc.title |
Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease |
|
| dc.type |
info:eu-repo/semantics/article |
|