Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles

Massimiliano Mirabella, Enzo Ricci, Giorgio Tasca, Mauro Monforte, Elisabetta Iannaccone, Roberto Frusciante, Pierfrancesco Ottaviani, M Pescatori, T Cubeddu, F Laschena

Risultato della ricerca: Contributo in rivistaArticolo in rivista

68 Citazioni (Scopus)

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and is characterized by a non-conventional genetic mechanism activated by pathogenic D4Z4 repeat contractions. By muscle Magnetic Resonance Imaging (MRI) we observed that T2-short tau inversion recovery (T2-STIR) sequences identify two different conditions in which each muscle can be found before the irreversible dystrophic alteration, marked as T1-weighted sequence hyperintensity, takes place. We studied these conditions in order to obtain further information on the molecular mechanisms involved in the selective wasting of single muscles or muscle groups in this disease.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
RivistaPLoS One
Volume7
DOI
Stato di pubblicazionePubblicato - 2012

Keywords

  • facioscapulohumeral muscular dystrophy
  • gene expression profiling
  • muscular MRI

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