Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.
Publication
, Journal Article
Pericak-Vance, MA; Barker, DF; Bergoffen, JA; Chance, P; Cochrane, S; Dahl, N; Exler, MC; Fain, PR; Fairweather, ND; Fischbeck, K
Published in: Hum Hered
1995
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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Published In
Hum Hered
DOI
ISSN
0001-5652
Publication Date
1995
Volume
45
Issue
3
Start / End Page
121 / 128
Location
Switzerland
Related Subject Headings
- X Chromosome
- Male
- Humans
- Haplotypes
- Genetics & Heredity
- Genetic Linkage
- Gap Junction beta-1 Protein
- Female
- Connexins
- Chromosome Mapping
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Pericak-Vance, M. A., Barker, D. F., Bergoffen, J. A., Chance, P., Cochrane, S., Dahl, N., … Fischbeck, K. (1995). Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1. Hum Hered, 45(3), 121–128. https://doi.org/10.1159/000154272
Pericak-Vance, M. A., D. F. Barker, J. A. Bergoffen, P. Chance, S. Cochrane, N. Dahl, M. C. Exler, P. R. Fain, N. D. Fairweather, and K. Fischbeck. “Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.” Hum Hered 45, no. 3 (1995): 121–28. https://doi.org/10.1159/000154272.
Pericak-Vance MA, Barker DF, Bergoffen JA, Chance P, Cochrane S, Dahl N, et al. Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1. Hum Hered. 1995;45(3):121–8.
Pericak-Vance, M. A., et al. “Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.” Hum Hered, vol. 45, no. 3, 1995, pp. 121–28. Pubmed, doi:10.1159/000154272.
Pericak-Vance MA, Barker DF, Bergoffen JA, Chance P, Cochrane S, Dahl N, Exler MC, Fain PR, Fairweather ND, Fischbeck K. Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1. Hum Hered. 1995;45(3):121–128.
Published In
Hum Hered
DOI
ISSN
0001-5652
Publication Date
1995
Volume
45
Issue
3
Start / End Page
121 / 128
Location
Switzerland
Related Subject Headings
- X Chromosome
- Male
- Humans
- Haplotypes
- Genetics & Heredity
- Genetic Linkage
- Gap Junction beta-1 Protein
- Female
- Connexins
- Chromosome Mapping