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

doi:10.1186/1750-1172-7-82

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Article

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

Orphanet journal of rare diseases - 23 Oct 2012

Juan-Mateu Jonàs, Rodríguez Maria José, 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

Abstract excerpt

BACKGROUND: Between 8% and 22% of female carriers of DMD mutations exhibit clinical symptoms of variable severity. Development of symptoms in DMD mutation carriers without chromosomal rearrangements has been attributed to skewed X-chromosome inactivation (XCI) favouring predominant expression of the DMD mutant allele. However the prognostic use of XCI analysis is controversial. We aimed to evaluate the...

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PMID: 23092449
DOI: 10.1186/1750-1172-7-82
PMCID: PMC3492175

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