The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
Abstract
LGMD1B is an autosomal dominantly inherited, slowly progressive limb girdle muscular dystrophy, with age-related atrioventricular cardiac conduction disturbances and the absence of early contractures. The disease has been linked to chromosome 1q11-q21. Within this locus another muscular dystrophy, the autosomal dominant form of Emery-Dreifuss muscular dystrophy (AD-EDMD) has recently been mapped and the corresponding gene identified. AD-ADMD is characterized by early contractures of elbows and Achilles tendons and a humero-peroneal distribution of weakness combined with a cardiomyopathy with conduction defects. The disease gene of AD-EDMD is LMNA which encodes lamins A/C, two proteins of the nuclear envelope. In order to identify whether or not LGMD1B and AD-EDMD are allelic disorders, we carried out a search for mutations in the LMNA gene in patients with LGMD1B. For this, PCR/SSCP/sequencing screening was carried out for the 12 exons of LMNA on DNA samples of individuals from three LGMD1B families that were linked to chromo-some 1q11-q21. Mutations were identified in all three LGMD1B families: a missense mutation, a deletion of a codon and a splice donor site mutation, respectively. The three mutations were identified in all affected members of the corresponding families and were absent in 100 unrelated control subjects. The present identification of mutations in the LMNA gene in LGMD1B demonstrates that LGMD1B and AD-EDMD are allelic disorders. Further analysis of phenotype-genotype relationship will help to clarify the variability of the phenotype observed in these two muscular dystrophies.
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Fatkin, D., MacRae, C., Sasaki, T., Wolff, M. R., Porcu, M., Frenneaux, M., Atherton, J., Vidaillet, H. J., Spudich, S., De Girolami, U., et al. (1999) · New England Journal of Medicine · doi:10.1056/nejm199912023412302 · Cited by 1,359
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Bonne, G., Barletta, M. R. D., Varnous, S., Bécane, H.-M., Hammouda, E.-H., Merlini, L., Muntoni, F., Greenberg, C. R., Gary, F., Urtizberea, J.-A., et al. (1999) · Nature Genetics · doi:10.1038/6799 · Cited by 1,358
Loss of a-Type Lamin Expression Compromises Nuclear Envelope Integrity Leading to Muscular Dystrophy
Sullivan, T., Escalante-Alcalde, D., Bhatt, H., Anver, M., Bhat, N., Nagashima, K., Stewart, C. L., & Burke, B. (1999) · The Journal of Cell Biology · doi:10.1083/jcb.147.5.913 · Cited by 1,211
Liu, J., Aoki, M., Illa, I., Wu, C., Fardeau, M., Angelini, C., Serrano, C., Urtizberea, J. A., Hentati, F., Hamida, M. B., et al. (1998) · Nature Genetics · doi:10.1038/1682 · Cited by 924
McKeon, F. D., Kirschner, M. W., & Caput, D. (1986) · Nature · doi:10.1038/319463a0 · Cited by 826
Fisher, D. Z., Chaudhary, N., & Blobel, G. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.17.6450 · Cited by 711
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
Shackleton, S., Lloyd, D. J., Jackson, S. N. J., Evans, R., Niermeijer, M. F., Singh, B. M., Schmidt, H., Brabant, G., Kumar, S., Durrington, P. N., et al. (2000) · Nature Genetics · doi:10.1038/72807 · Cited by 704
Cao, H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.1.109 · Cited by 662
Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis
Heald, R., & McKeon, F. (1990) · Cell · doi:10.1016/0092-8674(90)90470-y · Cited by 650
Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
Lin, F., & Worman, H. J. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)85424-8 · Cited by 632
Cited by
Emery, A. E. (2002) · The Lancet · doi:10.1016/s0140-6736(02)07815-7 · Cited by 1,667
Scotti, M. M., & Swanson, M. S. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.3 · Cited by 1,163
Nuclear lamins and laminopathies
Worman, H. J. (2012) · The Journal of Pathology · doi:10.1002/path.2999 · Cited by 401
Broers, J. L. V., Peeters, E. A. G., Kuijpers, H. J. H., Endert, J., Bouten, C. V. C., Oomens, C. W. J., Baaijens, F. P. T., & Ramaekers, F. C. S. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh295 · Cited by 359
Ramos, F. J., Chen, S. C., Garelick, M. G., Dai, D.-F., Liao, C.-Y., Schreiber, K. H., MacKay, V. L., An, E. H., Strong, R., Ladiges, W. C., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003802 · Cited by 349
Metadata
- Authors
- Muchir, A.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2000-05-22
- Volume
- 9
- Issue
- 9
- Pages
- 1453-1459
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2144562438
- Cited by
- 616
- References
- 33
- FWCI
- 11.38
- Type
- journal article
- Language
- en
- Open access
- closed
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- Muchir, A. (2000). Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Human Molecular Genetics. https://doi.org/10.1093/hmg/9.9.1453
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