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

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...

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Publication status:
Published

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Publisher copy:
10.1159/000154272

Authors


Pericak-Vance, MA More by this author
Barker, DF More by this author
Bergoffen, JA More by this author
Cochrane, S More by this author
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Journal:
Human heredity
Volume:
45
Issue:
3
Pages:
121-128
Publication date:
1995-05-05
DOI:
EISSN:
1423-0062
ISSN:
0001-5652
URN:
uuid:bc3cf846-50bd-4af3-9a11-71e8de601494
Source identifiers:
115649
Local pid:
pubs:115649

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