| Title |
Consortium Fine Localization of X-Linked Charcot-Marie-Tooth Disease (CMTX1): Additional Support that Connexin32 Is the Defect in CMTX1
|
|---|---|
| Published in |
Human Heredity, September 2008
|
| DOI | 10.1159/000154272 |
| Pubmed ID | |
| Authors |
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 P. Monaco, M. Mostaccuiolo, Garth A. Nicholson, Anna Sillén, Jonathan L. Haines |
| 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 connexin32 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. |
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Mendeley demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 15 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 4 | 27% |
| Professor | 3 | 20% |
| Student > Doctoral Student | 2 | 13% |
| Student > Ph. D. Student | 2 | 13% |
| Student > Bachelor | 1 | 7% |
| Other | 1 | 7% |
| Unknown | 2 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 6 | 40% |
| Medicine and Dentistry | 5 | 33% |
| Neuroscience | 2 | 13% |
| Unknown | 2 | 13% |