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

Marika Pane, Eugenio Maria Mercuri, Adele D'Amico, Enrico Silvio Bertini, Simona Brioschi, Francesca Gualandi, Chiara Scotton, Annarita Armaroli, Matteo Bovolenta, Maria S. Falzarano, Patrizia Sabatelli, Rita Selvatici, Giulia Ricci, Gabriele Siciliano, Silvana Tedeschi, Antonella Pini, Liliana Vercelli, Domenico De Grandis, Luciano Merlini, Tiziana MonginiAlessandra Ferlini

Risultato della ricerca: Contributo in rivistaArticolo in rivista

39 Citazioni (Scopus)

Abstract

Although Duchenne and Becker muscular dystrophies, X-linked recessive myopathies, predominantly affect males, a clinically significant proportion of females manifesting symptoms have also been reported. They represent an heterogeneous group characterized by variable degrees of muscle weakness and/or cardiac involvement. Though preferential inactivation of the normal X chromosome has long been considered the principal mechanism behind disease manifestation in these females, supporting evidence is controversial.
Lingua originaleEnglish
pagine (da-a)73-73
Numero di pagine1
RivistaBMC MEDICAL GENETICS
Volume13
DOI
Stato di pubblicazionePubblicato - 2012

Keywords

  • Adolescent
  • Adult
  • Alleles
  • Blotting, Western
  • Child
  • Child, Preschool
  • Comparative Genomic Hybridization
  • Dosage Compensation, Genetic
  • Dystrophin
  • Female
  • Heterozygote
  • Humans
  • Middle Aged
  • Muscle Weakness
  • Muscular Dystrophy, Duchenne
  • Mutation
  • Osteopontin
  • Phenotype
  • Polymerase Chain Reaction
  • Transcription, Genetic
  • X Chromosome Inactivation
  • Young Adult

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