Consortium Fine Localization of X-Linked Charcot-Marie-Tooth Disease (CMTX1): Additional Support that Connexin32 Is the Defect in CMTX1
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Consortium Fine Localization of X-Linked Charcot-Marie-Tooth Disease (CMTX1): Additional Support that Connexin32 Is the Defect in CMTX1

Margaret A. Pericak-Vance,David F. Barker,Joann Bergoffen,Phillip Chance,Susan Cochrane,Niklas Dahl,Mareike-Christine Exler,Pamela R. Fain,Nicholas D. Fairweather,Kenneth Fischbeck,Andreas Gal,Neva Haites,R. Ionasescu,Victor V. Ionasescu,Marina L. Kennerson,Anthony Monaco,M. Mostaccuiolo,Garth A. Nicholson,Anna Sillén,Jonathan L. Haines;Margaret A. Pericak-Vance;David F. Barker;Joann Bergoffen;Phillip Chance;Susan Cochrane;Niklas Dahl;Mareike-Christine Exler;Pamela R. Fain;Nicholas D. Fairweather;Kenneth Fischbeck;Andreas Gal;Neva Haites;R. Ionasescu;Victor V. Ionasescu;Marina L. Kennerson;Anthony Monaco;M. Mostaccuiolo;Garth A. Nicholson;Anna Sillén;Jonathan L. Haines;
human heredity 1995 Vol. 45 pp. 121-128
212
haines1995humanconsortium

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 have been defined in the connexin 32 gene that cosegregate with the CMTX1 phenotype in several families. The present paper presents the results of an international consortium to fine map the gene for CMTX1 to a small segment of Xq12-13. The linkage data, together with the molecular genetic studies, support the hypothesis that connexin32 is the genetic defect in CMTX1.

Keywords

linkage neuropathy x-linked charcot-marie-tooth disease connexin 32 x chromosome

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DOI:
10.1159/000154272
URL:
https://sciprofiles.com/publication/view/7f33e73ed...

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