Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations
2000; Wiley; Volume: 23; Issue: 5 Linguagem: Inglês
10.1002/(sici)1097-4598(200005)23
ISSN1097-4598
AutoresAtsushi Takano, C.G. B�nnemann, Hideo Honda, M Sakai, Chris A. Feener, Louis M. Kunkel, Gen Sobue,
Tópico(s)Genetics and Physical Performance
ResumoMuscle & NerveVolume 23, Issue 5 p. 807-810 Short Report Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations A. Takano MD, Corresponding Author A. Takano MD atakano@med.nagoya-u.ac.jp Department of Neurology, Nagoya University School of Medicine, 65 Tsurumai-cho Showa-ku Nagoya, 466-8550 JapanDepartment of Neurology, Nagoya University School of Medicine, 65 Tsurumai-cho Showa-ku Nagoya, 466-8550 JapanSearch for more papers by this authorC.G. Bönnemann MD, C.G. Bönnemann MD Division of Genetics and the Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorH. Honda MD, H. Honda MD Department of Neurology, Nagoya University School of Medicine, 65 Tsurumai-cho Showa-ku Nagoya, 466-8550 JapanSearch for more papers by this authorM. Sakai MD, M. Sakai MD Department of Neurology, Suzuka National Hospital, Suzuka, JapanSearch for more papers by this authorC.A. Feener MA, C.A. Feener MA Division of Genetics and the Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorL.M. Kunkel PhD, L.M. Kunkel PhD Division of Genetics and the Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorG. Sobue MD, G. Sobue MD Department of Neurology, Nagoya University School of Medicine, 65 Tsurumai-cho Showa-ku Nagoya, 466-8550 JapanSearch for more papers by this author A. Takano MD, Corresponding Author A. Takano MD atakano@med.nagoya-u.ac.jp Department of Neurology, Nagoya University School of Medicine, 65 Tsurumai-cho Showa-ku Nagoya, 466-8550 JapanDepartment of Neurology, Nagoya University School of Medicine, 65 Tsurumai-cho Showa-ku Nagoya, 466-8550 JapanSearch for more papers by this authorC.G. Bönnemann MD, C.G. Bönnemann MD Division of Genetics and the Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorH. Honda MD, H. Honda MD Department of Neurology, Nagoya University School of Medicine, 65 Tsurumai-cho Showa-ku Nagoya, 466-8550 JapanSearch for more papers by this authorM. Sakai MD, M. Sakai MD Department of Neurology, Suzuka National Hospital, Suzuka, JapanSearch for more papers by this authorC.A. Feener MA, C.A. Feener MA Division of Genetics and the Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorL.M. Kunkel PhD, L.M. Kunkel PhD Division of Genetics and the Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USASearch for more papers by this authorG. Sobue MD, G. Sobue MD Department of Neurology, Nagoya University School of Medicine, 65 Tsurumai-cho Showa-ku Nagoya, 466-8550 JapanSearch for more papers by this author First published: 24 April 2000 https://doi.org/10.1002/(SICI)1097-4598(200005)23:5 3.0.CO;2-0Citations: 10AboutPDF 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 Share a linkShare onFacebookTwitterLinkedInRedditWechat Abstract Two Japanese-Brazilian siblings with type 2C limb girdle muscular dystrophy showed a maternal 521-T deletion in exon 6 and a larger paternal deletion of exon 6 in the γ-sarcoglycan gene. One sib was ambulant at 29 years of age, whereas the other sib was confined to a wheelchair at the age of 12. Sarcoglycan staining of the muscle was reduced in both siblings but it did not correlate with the observed variability of the clinical severity. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 807–810, 2000 Citing Literature Volume23, Issue5May 2000Pages 807-810 RelatedInformation
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