Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.

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 have been defined in the connexin32 gene that cosegregate with the CMTX1 phenotype in severa...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser: Pericak-Vance, M, Barker, D, Bergoffen, J, Chance, P, Cochrane, S, Dahl, N, Exler, M, Fain, P, Fairweather, N, Fischbeck, K
Format: Journal article
Sprache:English
Veröffentlicht: 1995