Literature DB >> 8232953

Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy.

M Mirabella1, S Servidei, G Manfredi, E Ricci, A Frustaci, E Bertini, M Rana, P Tonali.   

Abstract

Cardiomyopathy was reported in a few Duchenne muscular dystrophy (DMD) carriers with clinical evidence of myopathy. We report two carriers with dilated cardiomyopathy, increased serum CK, and no symptoms of muscle weakness. In heart biopsies of both patients, dystrophin-the protein product of DMD locus--was absent in many fibers. Dilated cardiomyopathy may be the only manifestation of dystrophin gene mutation in carriers.

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Year:  1993        PMID： 8232953     DOI： 10.1212/wnl.43.11.2342

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  11 in total

1.  Effect of adopting a new histological grading system of acute rejection after heart transplantation.

Authors:  A H Balk; P E Zondervan; P van der Meer; T van Gelder; B Mochtar; M L Simoons; W Weimar
Journal:  Heart       Date:  1997-12       Impact factor: 5.994

Review 2.  Heart transplantation in patients with dystrophinopathic cardiomyopathy: Review of the literature and personal series.

Authors:  Andrea Antonio Papa; Paola D'Ambrosio; Roberta Petillo; Alberto Palladino; Luisa Politano
Journal:  Intractable Rare Dis Res       Date:  2017-05

3.  The heart in limb girdle muscular dystrophy.

Authors:  A J van der Kooi; W G de Voogt; P G Barth; H F Busch; F G Jennekens; P J Jongen; M de Visser
Journal:  Heart       Date:  1998-01       Impact factor: 5.994

4.  Clinical and genetic characterization of manifesting carriers of DMD mutations.

Authors:  Payam Soltanzadeh; Michael J Friez; Diane Dunn; Andrew von Niederhausern; Olga L Gurvich; Kathryn J Swoboda; Jacinda B Sampson; Alan Pestronk; Anne M Connolly; Julaine M Florence; Richard S Finkel; Carsten G Bönnemann; Livija Medne; Jerry R Mendell; Katherine D Mathews; Brenda L Wong; Michael D Sussman; Jonathan Zonana; Karen Kovak; Sidney M Gospe; Eduard Gappmaier; Laura E Taylor; Michael T Howard; Robert B Weiss; Kevin M Flanigan
Journal:  Neuromuscul Disord       Date:  2010-07-13       Impact factor: 4.296

5.  Cardiac electrophysiological characteristics of the mdx ( 5cv ) mouse model of Duchenne muscular dystrophy.

Authors:  Dorothy M Branco; Cordula M Wolf; Megan Sherwood; Peter E Hammer; Peter B Kang; Charles I Berul
Journal:  J Interv Card Electrophysiol       Date:  2007-10-17       Impact factor: 1.900

Review 6.  Dilated cardiomyopathy and the dystrophin gene: an illustrated review.

Authors:  A Oldfors; B O Eriksson; M Kyllerman; T Martinsson; J Wahlström
Journal:  Br Heart J       Date:  1994-10

7.  Assessment of left ventricular regional function in affected and carrier dogs with Duchenne muscular dystrophy using speckle tracking echocardiography.

Authors:  Hiroshi Takano; Yoko Fujii; Naoko Yugeta; Shinichi Takeda; Yoshito Wakao
Journal:  BMC Cardiovasc Disord       Date:  2011-05-25       Impact factor: 2.298

8.  Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms.

Authors:  Akanchha Kesari; Robert Neel; Lynne Wagoner; Brennan Harmon; Christopher Spurney; Eric P Hoffman
Journal:  Am J Med Genet A       Date:  2009-07       Impact factor: 2.802

9.  Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.

Authors:  M G Shaikh; L Boyes; H Kingston; R Collins; G T N Besley; B Padmakumar; O Ismayl; I Hughes; C M Hall; C Hellerud; J C Achermann; P E Clayton
Journal:  J Med Genet       Date:  2008-09       Impact factor: 6.318

10.  Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers.

Authors:  Vincenzo Giglio; Paolo Emilio Puddu; Giovanni Camastra; Stefano Sbarbati; Sabino Walter Della Sala; Alessandra Ferlini; Francesca Gualandi; Enzo Ricci; Federico Sciarra; Gerardo Ansalone; Marco Di Gennaro
Journal:  J Cardiovasc Magn Reson       Date:  2014-07-09       Impact factor: 5.364
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