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

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

<p>Abstract</p> <p>Background</p> <p>Between 8% and 22% of female carriers of <it>DMD</it> mutations exhibit clinical symptoms of variable severity. Development of symptoms in <it>DMD</it> mutation carriers without chromosomal rearrangements has...

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Bibliographic Details
Main Authors: Juan-Mateu Jonàs, Rodríguez Maria, Nascimento Andrés, Jiménez-Mallebrera Cecilia, González-Quereda Lidia, Rivas Eloy, Paradas Carmen, Madruga Marcos, Sánchez-Ayaso Pedro, Jou Cristina, González-Mera Laura, Munell Francina, Roig-Quilis Manuel, Rabasa Maria, Hernández-Lain Aurelio, Díaz-Manera Jorge, Gallardo Eduard, Pascual Jordi, Verdura Edgard, Colomer Jaume, Baiget Montserrat, Olivé Montse, Gallano Pia
Format: Article
Language:English
Published: BMC 2012-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Dystrophin
<it>DMD</it>
Symptomatic carrier
Duchenne muscular dystrophy
Becker muscular dystrophy
X-chromosome inactivation
Online Access:http://www.ojrd.com/content/7/1/82

Internet

http://www.ojrd.com/content/7/1/82

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