Literature DB >> 16380627

Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy.

Edo M Hoogerwaard1, Ieke B Ginjaar, Egbert Bakker, Marianne de Visser.   

Abstract

Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated. No associations between dystrophin abnormalities and clinical variables in DMD/BMD carriers were found. Because 26% of nonmanifesting carriers have dystrophin-negative fibers, this might be used in suspected DMD/BMD carriers in whom DNA analysis fails to give an answer about their carrier risk.

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Year:  2005        PMID： 16380627     DOI： 10.1212/01.wnl.0000188909.89849.59

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


  11 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.  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

Review 3.  Cardiac involvement in Becker muscular dystrophy.

Authors:  Josef Finsterer; Claudia Stöllberger
Journal:  Can J Cardiol       Date:  2008-10       Impact factor: 5.223

4.  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

5.  Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.

Authors:  Simona Brioschi; Francesca Gualandi; Chiara Scotton; Annarita Armaroli; Matteo Bovolenta; Maria S Falzarano; Patrizia Sabatelli; Rita Selvatici; Adele D'Amico; Marika Pane; Giulia Ricci; Gabriele Siciliano; Silvana Tedeschi; Antonella Pini; Liliana Vercelli; Domenico De Grandis; Eugenio Mercuri; Enrico Bertini; Luciano Merlini; Tiziana Mongini; Alessandra Ferlini
Journal:  BMC Med Genet       Date:  2012-08-16       Impact factor: 2.103

6.  Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis.

Authors:  Jiyeol Yoon; Se Hoon Kim; Chang-Seok Ki; Min-Jung Kwon; Mie-Jin Lim; Seong-Ryul Kwon; Kowoon Joo; Chang-Gi Moon; Won Park
Journal:  J Korean Med Sci       Date:  2011-03-28       Impact factor: 2.153

7.  Clinical and genetic characteristics of female dystrophinopathy carriers.

Authors:  Jingzi Zhong; Yanshu Xie; Vidata Bhandari; Gang Chen; Yiwu Dang; Haixia Liao; Jiapeng Zhang; Dan Lan
Journal:  Mol Med Rep       Date:  2019-02-25       Impact factor: 2.952

8.  Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family.

Authors:  Joonhong Park; Woori Jang; Ji Yoon Han
Journal:  Mol Genet Genomic Med       Date:  2019-07-25       Impact factor: 2.183

9.  Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

Authors:  Jonàs Juan-Mateu; Maria José Rodríguez; Andrés Nascimento; Cecilia Jiménez-Mallebrera; Lidia González-Quereda; Eloy Rivas; Carmen Paradas; Marcos Madruga; Pedro Sánchez-Ayaso; Cristina Jou; Laura González-Mera; Francina Munell; Manuel Roig-Quilis; Maria Rabasa; Aurelio Hernández-Lain; Jorge Díaz-Manera; Eduard Gallardo; Jordi Pascual; Edgard Verdura; Jaume Colomer; Montserrat Baiget; Montse Olivé; Pia Gallano
Journal:  Orphanet J Rare Dis       Date:  2012-10-23       Impact factor: 4.123

10.  Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy.

Authors:  Mónica Alejandra Anaya-Segura; Héctor Rangel-Villalobos; Gabriela Martínez-Cortés; Benjamín Gómez-Díaz; Ramón Mauricio Coral-Vázquez; Edgar Oswaldo Zamora-González; Silvia García; Luz Berenice López-Hernández
Journal:  Int J Mol Sci       Date:  2016-08-13       Impact factor: 5.923
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