Episodic myoglobinuria in a primary gamma-sarcoglycanopathy.
作者： Loren Pena , Katherine Kim , Joel Charrow
DOI: 10.1016/J.NMD.2010.02.015
关键词:
摘要: Episodic myoglobinuria is a well-recognized complication of metabolic myopathies, and may occur in Duchenne Becker dystrophies, but has only rarely been associated with limb-girdle muscular dystrophy. We describe an unusual presentation, rhabdomyolysis, dystrophy (LGMD). evaluated patient for progressive muscle weakness tenderness, one week after initial presentation. Immunohistochemistry on tissue revealed absent staining gamma-sarcoglycan, confirmed by detection homozygous mutation the gamma-sarcoglycan gene. Myoglobinuria previously reported twice LGMD. It therefore important to recognize that be symptom dystrophy, biopsy immunostaining are tools diagnosis.
elsevier.com
sci-hub.se 参考文章(14)
[edited by] Richard A. McPherson, Matthew R. Pincus, Henry's Clinical Diagnosis and Management by Laboratory Methods ,(2006)
Ana L Huerta-Alardín, Joseph Varon, Paul E Marik, Bench-to-bedside review: Rhabdomyolysis – an overview for clinicians Critical Care. ,vol. 9, pp. 158- 169 ,(2004) , 10.1186/CC2978
R. Cagliani, G.P. Comi, L. Tancredi, M. Sironi, F. Fortunato, R. Giorda, A. Bardoni, M. Moggio, A. Prelle, N. Bresolin, G. Scarlato, Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. Neuromuscular Disorders. ,vol. 11, pp. 389- 394 ,(2001) , 10.1016/S0960-8966(00)00207-8
Stefan J. White, Shirley Uitte de Willige, Dennis Verbove, Luisa Politano, Ieke Ginjaar, Martijn H. Breuning, Johan T. den Dunnen, Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. Human Mutation. ,vol. 26, pp. 59- 59 ,(2005) , 10.1002/HUMU.9347
T. Mongini, C. Doriguzzi, I. Bosone, L. Chiadò-Piat, E. P. Hoffman, L. Palmucci, Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria. Neuropediatrics. ,vol. 33, pp. 109- 111 ,(2002) , 10.1055/S-2002-32374
Matthias Vorgerd, Martin Gencik, Johannes Mortier, J�rg T. Epplen, Jean-Pierre Malin, Wilhelm Mortier, Isolated loss of γ-sarcoglycan: Diagnostic implications in autosomal recessive limb-girdle muscular dystrophies Muscle & Nerve. ,vol. 24, pp. 421- 424 ,(2001) , 10.1002/1097-4598(200103)24:3<421::AID-MUS1016>3.0.CO;2-R
Eijiro Ozawa, Yuji Mizuno, Yasuko Hagiwara, Toshikuni Sasaoka, Mikiharu Yoshida, Molecular and cell biology of the sarcoglycan complex Muscle & Nerve. ,vol. 32, pp. 563- 576 ,(2005) , 10.1002/MUS.20349
Ahmed Aboumousa, Jessica Hoogendijk, Richard Charlton, Rita Barresi, Ralf Herrmann, Thomas Voit, Judith Hudson, Mark Roberts, David Hilton-Jones, Michelle Eagle, Kate Bushby, Volker Straub, Caveolinopathy – New mutations and additional symptoms Neuromuscular Disorders. ,vol. 18, pp. 572- 578 ,(2008) , 10.1016/J.NMD.2008.05.003
Eijiro Ozawa, Satoru Noguchi, Yuji Mizuno, Yasuko Hagiwara, Mikiharu Yoshida, From dystrophinopathy to sarcoglycanopathy: Evolution of a concept of muscular dystrophy Muscle & Nerve. ,vol. 21, pp. 421- 438 ,(1998) , 10.1002/(SICI)1097-4598(199804)21:4<421::AID-MUS1>3.0.CO;2-B
Andrew A. Hack, Margaret E. Groh, Elizabeth M. McNally, Sarcoglycans in muscular dystrophy. Microscopy Research and Technique. ,vol. 48, pp. 167- 180 ,(2000) , 10.1002/(SICI)1097-0029(20000201/15)48:3/4<167::AID-JEMT5>3.0.CO;2-T