Corrélations génotype/phénotype dans la maladie de Charcot-Marie-Tooth : l'exemple des mutations du gène INF2

Abstract : Charcot-Marie-Tooth disease (CMT) is a neurological disorder of the peripheral nervous system. Even if it was described in the end of the nineteenth century, the first genetic abnormality (PMP22 duplication) was found only in the end of the twentieth century. Several other genes were found to be associated with this disease. This important number of potential genes leads us to find genotype-phenotype correlations in order to better and earlier diagnose these patients. As we can show it in our work, it is possible to use biological, electrophysiological (sometimes radiological) and pathological (nerve biopsy) in order to direct the genetic analysis towards the incriminated gene. To illustrate this, we have particularly study the INF2 gene, a gene recently associated with CMT. In this example, clinical (CMT phenotype and renal failure), electrophysiological (intermediate form of CMT), and pathological (supernumerary extensions of Schwann cells cytoplasm) features call to mind mutations in the INF2 gene. Other examples of genotype-phenotype correlations associated with various genes are reported in this manuscript.
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Stéphane Mathis. Corrélations génotype/phénotype dans la maladie de Charcot-Marie-Tooth : l'exemple des mutations du gène INF2. Médecine humaine et pathologie. Université de Limoges, 2014. Français. ⟨NNT : 2014LIMO0038⟩. ⟨tel-01127917⟩

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