CONSORTIUM FINE LOCALIZATION OF X-LINKED CHARCOT-MARIE-TOOTH DISEASE (CMTX1) - ADDITIONAL SUPPORT THAT CONNEXIN32 IS THE DEFECT IN CMTX1

Authors
PERICAKVANCE MA BARKER DF BERGOFFEN JA CHANCE P COCHRANE S DAHL N EXLER MC FAIN PR FAIRWEATHER ND FISCHBECK K GAL A HAITES N IONASESCU R IONASESCU VV KENNERSON ML MONACO AP MOSTACCUIOLO M NICHOLSON GA SILLEN A HAINES JL
Citation
Ma. Pericakvance et al., CONSORTIUM FINE LOCALIZATION OF X-LINKED CHARCOT-MARIE-TOOTH DISEASE (CMTX1) - ADDITIONAL SUPPORT THAT CONNEXIN32 IS THE DEFECT IN CMTX1, Human heredity, 45(3), 1995, pp. 121-128
Citations number
46
Categorie Soggetti
Genetics & Heredity
Journal title
Human heredity → ACNP
ISSN journal
00015652
Volume
45
Issue
3
Year of publication
1995
Pages
121 - 128
Database
ISI
SICI code
0001-5652(1995)45:3<121:CFLOXC>2.0.ZU;2-L
Abstract
Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. X-linked CMT (CMTX1) has been localized to the pericentric region of the X chromosome. Recently, mutations ha ve been defined in the connexin 32 gene that cosegregate with the CMTX 1 phenotype in several families. The present paper presents the result s of an international consortium to fine map the gene for CMTX1 to a s mall segment of Xq12-13. The linkage data, together with the molecular genetic studies, support the hypothesis that connexin 32 is the genet ic defect in CMTX1.