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

S Brioschi, F Gualandi, C Scotton, A Armaroli, M Bovolenta, Falzarano, P Sabatelli, R Selvatici, Adele D'Amico, Marika Pane, Giuseppe Ricci, Giacinto Siciliano, S Tedeschi, A Pini, L Vercelli, D De Grandis, Eugenio Maria Mercuri, Enrico Silvio Bertini, L Merlini, T MonginiA. Ferlini*

*Autore corrispondente per questo lavoro

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
Numero di pubblicazioneAgosto
DOI
Stato di pubblicazionePubblicato - 2012

All Science Journal Classification (ASJC) codes

  • ???subjectarea.asjc.1300.1311???
  • ???subjectarea.asjc.2700.2716???

Keywords

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

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