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Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.
Open accessAbstract
We have mapped a disease locus for Wolff-Parkinson-White syndrome (WPW) and familial hypertrophic cardiomyopathy (FHC) segregating in a large kindred to chromosome 7 band q3. Although WPW syndrome and FHC have been observed in members of the same family in prior studies, the relationship between these two diseases has remained enigmatic. A large family with 25 surviving individuals who are affected by one or both of these conditions was studied. The disease locus is closely linked to loci D7S688, D7S505, and D7S483 (maximum two point LOD score at D7S505 was 7.80 at theta = 0). While four different FHC loci have been described this is the first locus that can be mutated to cause both WPW and/or FHC.
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Cites
Analysis of Human Genetic Linkage
Ott, J. (1999) · doi:10.56021/9780801861406 · Cited by 754
Familial occurrence of accessory atrioventricular pathways (preexcitation syndrome)
Vidaillet, H. J., Pressley, J. C., Henke, E., Harrell, F. E., & German, L. D. (1987) · New England Journal of Medicine · doi:10.1056/nejm198707093170201 · Cited by 147
Cited by
Identification of a gene responsible for familial Wolff-Parkinson-White syndrome
Gollob, M. H., Green, M. S., Tang, A. S.-L., Gollob, T., Karibe, A., Hassan, A.-S., Ahmad, F., Lozado, R., Shah, G., Fananapazir, L., et al. (2001) · New England Journal of Medicine · doi:10.1056/nejm200106143442403 · Cited by 671
Familial Hypertrophic Cardiomyopathy: From Mutations to Functional Defects
Bonne, G., Carrier, L., Richard, P., Hainque, B., & Schwartz, K. (1998) · Circulation Research · doi:10.1161/01.res.83.6.580 · Cited by 425
α-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
Mogensen, J., Klausen, I. C., Pedersen, A. K., Egeblad, H., Bross, P., Kruse, T. A., Gregersen, N., Hansen, P. S., Baandrup, U., & Børglum, A. D. (1999) · Journal of Clinical Investigation · doi:10.1172/jci6460 · Cited by 396
AMPK alterations in cardiac physiology and pathology: enemy or ally?
Dyck, J. R. B., & Lopaschuk, G. D. (2006) · The Journal of Physiology · doi:10.1113/jphysiol.2006.109389 · Cited by 391
Wilde, A. A. M., Semsarian, C., Márquez, M. F., Shamloo, A. S., Ackerman, M. J., Ashley, E. A., Sternick, E. B., Barajas-Martinez, H., Behr, E. R., Bezzina, C. R., et al. (2022) · Europace · doi:10.1093/europace/euac030 · Cited by 380
Metadata
- Authors
- MacRae, C. A., Ghaisas, N., Kass, S., Donnelly, S., Basson, C. T., Watkins, H. C., Anan, R., Thierfelder, L. H., McGarry, K., & Rowland, E.
- Venue
- Journal of Clinical Investigation
- Published
- 1995-09-01
- Volume
- 96
- Issue
- 3
- Pages
- 1216-1220
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W1974847389
- Cited by
- 221
- References
- 2
- FWCI
- 11.22
- Type
- journal article
- Language
- en
- Open access
- bronze
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- MacRae, C. A., Ghaisas, N., Kass, S., Donnelly, S., Basson, C. T., Watkins, H. C., Anan, R., Thierfelder, L. H., McGarry, K., & Rowland, E. (1995). Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. Journal of Clinical Investigation. https://doi.org/10.1172/jci118154
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