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EnglishDuchenne muscular dystrophy (DMD) female carriers are usually clinically asymptomatic. Nevertheless exceptions are reported and manifesting carriers can develop symptoms, varying from a mild muscle weakness to a DMD-like phenotype. The molecular mechanism underlying the clinical heterogeneity in female carriers is unknown and other modifiers, either genetics or environmental, could play a role. We adopted a combined approach based on omics studies associated with bioinformatics and novel statistical tools, in order to identify genetic modifiers influencing the symptomatic phenotype in a group of DMD female carriers.
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| Titolo: | Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy |
| Autori: | |
| Data di pubblicazione: | 2015 |
| Rivista: | |
| Abstract: | Duchenne muscular dystrophy (DMD) female carriers are usually clinically asymptomatic. Nevertheless exceptions are reported and manifesting carriers can develop symptoms, varying from a mild muscle weakness to a DMD-like phenotype. The molecular mechanism underlying the clinical heterogeneity in female carriers is unknown and other modifiers, either genetics or environmental, could play a role. We adopted a combined approach based on omics studies associated with bioinformatics and novel statistical tools, in order to identify genetic modifiers influencing the symptomatic phenotype in a group of DMD female carriers. |
| Handle: | http://hdl.handle.net/11392/2365762 |
| Appare nelle tipologie: | 04.1 Contributi in atti di convegno (in Rivista) |
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