Molecular mechanisms of muscular dystrophies: old and new players
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cell Biology,Molecular Biology
Link
http://www.nature.com/articles/nrm2024.pdf
Reference134 articles.
1. Hackman, P. et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am. J. Hum. Genet. 71, 492–500 (2002).
2. Muchir, A. et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum. Mol. Genet. 9, 1453–1459 (2000).
3. Bonne, G. et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery–Dreifuss muscular dystrophy. Nature Genet. 21, 285–288 (1999).
4. Novelli, G. et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am. J. Hum. Genet. 71, 426–431 (2002).
5. Chen, L. et al. LMNA mutations in atypical Werner's syndrome. Lancet 362, 440–445 (2003).
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