Title |
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
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Published in |
BMC Medical Genomics, August 2012
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DOI | 10.1186/1471-2350-13-73 |
Pubmed ID | |
Authors |
Simona Brioschi, Francesca Gualandi, Chiara Scotton, Annarita Armaroli, Matteo Bovolenta, Maria S Falzarano, Patrizia Sabatelli, Rita Selvatici, Adele D’Amico, Marika Pane, Giulia Ricci, Gabriele Siciliano, Silvana Tedeschi, Antonella Pini, Liliana Vercelli, Domenico De Grandis, Eugenio Mercuri, Enrico Bertini, Luciano Merlini, Tiziana Mongini, Alessandra Ferlini |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Mexico | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 1% |
France | 1 | 1% |
Italy | 1 | 1% |
Unknown | 92 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 17 | 18% |
Researcher | 12 | 13% |
Student > Master | 12 | 13% |
Student > Bachelor | 11 | 12% |
Other | 9 | 9% |
Other | 20 | 21% |
Unknown | 14 | 15% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 21 | 22% |
Biochemistry, Genetics and Molecular Biology | 18 | 19% |
Agricultural and Biological Sciences | 17 | 18% |
Neuroscience | 9 | 9% |
Immunology and Microbiology | 3 | 3% |
Other | 10 | 11% |
Unknown | 17 | 18% |