Literature DB >> 10674846

A female carrier of Duchenne muscular dystrophy complicated with cardiomyopathy.

H Ogata1, H Nakagawa, K Hamabe, A Hattori, Y Ishikawa, Y Ishikawa, M Saito, R Minami.   

Abstract

A 45-year-old female carrier of Duchenne muscular dystrophy (DMD) complicated with cardiomyopathy is described. She had no symptoms of muscle weakness or heart failure. Her chest X-ray film revealed marked cardiomegaly. Echocardiogram showed marked enlargement and severe hypokinesis of the left ventricle. In myocardial scintigraphic images, perfusion defects of the myocardium were revealed. Dystrophin immunostaining of myocardial biopsy specimens showed a mosaic pattern of dystrophin-negative and -positive fibers. Cardiomyopathy is sometimes the only clinical symptom in female carriers of DMD. They are thought to be in a high risk group for developing heart failure.

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Year:  2000        PMID： 10674846     DOI： 10.2169/internalmedicine.39.34

Source DB:  PubMed          Journal:  Intern Med        ISSN： 0918-2918            Impact factor:   1.271


  3 in total

1.  Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.

Authors:  Sandra Mercier; Annick Toutain; Aurélie Toussaint; Martine Raynaud; Claire de Barace; Pascale Marcorelles; Laurent Pasquier; Martine Blayau; Caroline Espil; Philippe Parent; Hubert Journel; Leila Lazaro; Jon Andoni Urtizberea; Alexandre Moerman; Laurence Faivre; Bruno Eymard; Kim Maincent; Romain Gherardi; Denys Chaigne; Rabah Ben Yaou; France Leturcq; Jamel Chelly; Isabelle Desguerre
Journal:  Eur J Hum Genet       Date:  2013-01-09       Impact factor: 4.246

2.  Muscular and cardiac manifestations in a Duchenne-carrier harboring a dystrophin deletion of exons 12-29.

Authors:  Josef Finsterer; Claudia Stöllberger; Birgit Freudenthaler; Desiree De Simoni; Romana Höftberger; Klaus Wagner
Journal:  Intractable Rare Dis Res       Date:  2018-05

3.  The effects of low levels of dystrophin on mouse muscle function and pathology.

Authors:  Maaike van Putten; Margriet Hulsker; Vishna Devi Nadarajah; Sandra H van Heiningen; Ella van Huizen; Maarten van Iterson; Peter Admiraal; Tobias Messemaker; Johan T den Dunnen; Peter A C 't Hoen; Annemieke Aartsma-Rus
Journal:  PLoS One       Date:  2012-02-16       Impact factor: 3.240
  3 in total

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