Leader : Pascale Guicheney, DR1, INSERM
The team’s programme concerns the identification and physiopathological characterisation of the genetic defects responsible for skeletal muscle pathologies and familial cardiac arrhythmias.
The nosology of congenital muscular dystrophies (CMD) and congenital myopathies – and in particular the congenital “core” myopathies and the “centronuclear”-type myopathies (CNM) – is far from complete, despite the identification of numerous genes during the last years. A major difficulty for the classification of these rare pathologies lies in their clinical and genetic heterogeneity.
The definition of homogeneous disease entities, indispensable for genetic studies, necessitates the reevaluation of classic diagnostic criteria for each entity, and often requires the identification of new, more specific criteria, which can be clinical, morphological or immunocytochemical. In order to identify new genes, homogenous disease sub-groups are progressively being defined and homogenous patient cohorts are identified in collaboration with French and European research networks working on the different pathologies.
