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.
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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: | 04.3 Abstract (Riassunto) in convegno in Rivista/Volume |