Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1186/s12881-014-0141-2/fulltext.html
Reference30 articles.
1. Fuller DD, ElMallah MK, Smith BK, Corti M, Lawson LA, Falk DJ, Byrne BJ: The respiratory neuromuscular system in Pompe disease. Respir Respir Physiol Neurobiol. 2013, 189: 241-249. 10.1016/j.resp.2013.06.007.
2. Ansong AK, Li JS, Nozik-Grayck E, Ing R, Kravitz RM, Idriss SF, Kanter RJ, Rice H, Chen YT, Kishnani PS: Electrocardiographic response to enzyme replacement therapy for Pompe disease. Genet Med. 2006, 8: 297-301. 10.1097/01.gim.0000195896.04069.5f.
3. Müller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, Walter MC, Baethmann M, Schlotter-Weigel B, Lochmüller H, Schoser B: Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord. 2007, 17: 698-706. 10.1016/j.nmd.2007.06.002.
4. Laforêt P, Nicolino M, Eymard PB, Puech JP, Caillaud C, Poenaru L, Fardeau M: Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology. 2000, 55: 1122-1128. 10.1212/WNL.55.8.1122.
5. Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ: The genotype–phenotype correlation in Pompe disease. Am J Med Genet C: Semin Med Genet. 2012, 160C: 59-68. 10.1002/ajmg.c.31318.
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