Large scale genetic approach for the molecular characterization of autosomalrecessive Charcot-Marie-Tooth disease.

Most of the identified genes and loci in ARCMT have resulted from studies of large inbred families originating fromparticular geographic areas or specific ethnic groups (e.g. Gypsies). Although there are no reported attempts in theliterature to target small families with this disease, some studies have shown that, as a proof of principle, such strategy canbe successful (7, 8). Using our collection of families and by following the approach for mapping of recessive disorderstogether with genotyping technologies, we aim to create a powerful tool for ARCMT locus and gene identification.Furthermore, novel technologies now also allow targeting of small families.

Keywords:CHARCOT-MARIE-TOOTH DISEASE, NEUROPATHIES

Disciplines:Genetics, Systems biology, Molecular and cell biology, Neurosciences, Biological and physiological psychology, Cognitive science and intelligent systems, Developmental psychology and ageing