Emery-Dreifuss Muscular Dystrophy
Author:
Publisher
Springer New York
Link
http://link.springer.com/content/pdf/10.1007/978-1-4614-6567-6_61
Reference93 articles.
1. Emery AE, Dreifuss FE. Unusual type of benign x-linked muscular dystrophy. J Neurol Neurosurg Psychiatry. 1966;29:338–42.
2. Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994;8:323–7.
3. Bione S, Tamanini F, Maestrini E, et al. Transcriptional organization of a 450-kb region of the human X chromosome in Xq28. Proc Natl Acad Sci U S A. 1993;90:10977–81.
4. Raffaele Di Barletta M, Ricci E, Galluzzi G, et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2000;66:1407–12.
5. Jimenez-Escrig A, Gobernado I, Garcia-Villanueva M, Sanchez-Herranz A. Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. Muscle Nerve. 2012;45:605–10.
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