Publication: Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of duchenne muscular dystrophy with duplication of dystrophin gene
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Issued Date
2009-09-01
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15371611
15220443
15220443
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2-s2.0-70349155054
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of Clinical Neuromuscular Disease. Vol.11, No.1 (2009), 49-53
Suggested Citation
Atchara Tunteeratum, Rawiphan Witoonpanich, Suchart Phudhichareonrat, Jakris Eu-Ahsunthornwattana, Sarinee Pingsuthiwong, Kanoknan Srichan, Thanyachai Sura Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of duchenne muscular dystrophy with duplication of dystrophin gene. Journal of Clinical Neuromuscular Disease. Vol.11, No.1 (2009), 49-53. doi:10.1097/CND.0b013e3181adcda7 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/27970
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Title
Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of duchenne muscular dystrophy with duplication of dystrophin gene
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Abstract
We report a 69-year-old woman who presented with dyspnea, orthopnea, and acute renal failure. She also had proximal muscle weakness suggestive of muscle disease. Her symptoms were alleviated by induced dieresis, although there was high-serum creatine kinase. Investigations for any possible etiologies of rhabdomyolysis were all negative. An X-linked recessive muscle disease was highly suspicious in view of the fact that both of her sons had suffered from muscle disease and died of respiratory failure at the ages of 22 and 29, respectively. Her muscle biopsy showed mosaic pattern with dystrophin antibody against amino-terminal, carboxy-terminal, and rod domain. Her DNA study revealed heterozygous duplication at exon 1 to 6 of the dystrophin gene as well. Therefore, she is a manifesting carrier of dystrophinopathy who was first diagnosed in late adulthood with congestive heart failure, acute episode of spontaneous rhabdomyolysis, and acute renal failure. © 2009 by Lippincott Williams & Wilkins.