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An autopsy case of a dysferlinopathy patient with cardiac involvement

2011; Wiley; Volume: 45; Issue: 2 Linguagem: Inglês

10.1002/mus.22247

1097-4598

Naoki Suzuki, Toshiaki Takahashi, Yasushi Suzuki, Koichi Narikawa, Sonoko Kudo, Hiroyoshi Suzuki, M. Tateyama, Masashi Aoki,

Protein Tyrosine Phosphatases

Muscle & NerveVolume 45, Issue 2 p. 298-299 Letter to the Editor An autopsy case of a dysferlinopathy patient with cardiac involvement Naoki Suzuki MD, Naoki Suzuki MD Department of Neurology, Tohoku University School of Medicine, Sendai, JapanSearch for more papers by this authorToshiaki Takahashi MD, Toshiaki Takahashi MD Department of Neurology, Nishitaga National Hospital, Sendai, JapanSearch for more papers by this authorYasushi Suzuki MD, Yasushi Suzuki MD Department of Neurology, Sendai Medical Center, Sendai, JapanSearch for more papers by this authorKoichi Narikawa MD, Koichi Narikawa MD Department of Neurology, Sendai Medical Center, Sendai, JapanSearch for more papers by this authorSonoko Kudo MD, Sonoko Kudo MD Department of Neurology, Sendai Medical Center, Sendai, JapanSearch for more papers by this authorHiroyoshi Suzuki MD, Hiroyoshi Suzuki MD Department of Pathology, Sendai Medical Center, Sendai, JapanSearch for more papers by this authorMaki Tateyama MD, Maki Tateyama MD Department of Neurology, Tohoku University School of Medicine, Sendai, JapanSearch for more papers by this authorMasashi Aoki MD, Masashi Aoki MD Department of Neurology, Tohoku University School of Medicine, Sendai, JapanSearch for more papers by this author Naoki Suzuki MD, Naoki Suzuki MD Department of Neurology, Tohoku University School of Medicine, Sendai, JapanSearch for more papers by this authorToshiaki Takahashi MD, Toshiaki Takahashi MD Department of Neurology, Nishitaga National Hospital, Sendai, JapanSearch for more papers by this authorYasushi Suzuki MD, Yasushi Suzuki MD Department of Neurology, Sendai Medical Center, Sendai, JapanSearch for more papers by this authorKoichi Narikawa MD, Koichi Narikawa MD Department of Neurology, Sendai Medical Center, Sendai, JapanSearch for more papers by this authorSonoko Kudo MD, Sonoko Kudo MD Department of Neurology, Sendai Medical Center, Sendai, JapanSearch for more papers by this authorHiroyoshi Suzuki MD, Hiroyoshi Suzuki MD Department of Pathology, Sendai Medical Center, Sendai, JapanSearch for more papers by this authorMaki Tateyama MD, Maki Tateyama MD Department of Neurology, Tohoku University School of Medicine, Sendai, JapanSearch for more papers by this authorMasashi Aoki MD, Masashi Aoki MD Department of Neurology, Tohoku University School of Medicine, Sendai, JapanSearch for more papers by this author First published: 27 July 2011 https://doi.org/10.1002/mus.22247Citations: 9Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References 1 Takahashi T, Aoki M, Tateyama M, Kondo E, Mizuno T, Onodera Y, et al. Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. Neurology 2003; 60: 1799– 1804. 2 Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998; 20: 37– 42. 3 Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998; 20: 31– 36. 4 Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 2003; 423: 168– 172. 5 Han R, Bansal D, Miyake K, Muniz VP, Weiss RM, McNeil PL, et al. Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury. J Clin Invest 2007; 117: 1805– 1813. 6 Kuru S, Yasuma F, Wakayama T, Kimura S, Konagaya M, Aoki M, et al. A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy [in Japanese]. Rinsho Shinkeigaku 2004; 44: 375– 378. 7 Miyoshi K, Kawai H, Iwasa M, Kusaka K, Nishino H. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. Brain 1986; 109: 31– 54. Citing Literature Volume45, Issue2February 2012Pages 298-299 ReferencesRelatedInformation