TY - JOUR
T1 - Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles
AU - Tasca, Giorgio
AU - Pescatori, Mario
AU - Monforte, Mauro
AU - Mirabella, Massimiliano
AU - Iannaccone, Elisabetta
AU - Frusciante, Roberto
AU - Cubeddu, Tiziana
AU - Laschena, Francesco
AU - Ottaviani, Pierfrancesco
AU - Ricci, Enzo
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
KW - facioscapulohumeral muscular dystrophy
KW - gene expression profiling
KW - muscular MRI
KW - facioscapulohumeral muscular dystrophy
KW - gene expression profiling
KW - muscular MRI
UR - http://hdl.handle.net/10807/17395
U2 - 10.1371/journal.pone.0038779
DO - 10.1371/journal.pone.0038779
M3 - Article
SN - 1932-6203
VL - 7
SP - N/A-N/A
JO - PLoS One
JF - PLoS One
ER -