The team at the Créteil Neuromuscular Disease Reference Centre takes stock of congenital myopathies in the light of the recent exponential increase in knowledge in this field:
- in addition to the histological criteria which largely contributed to their original descriptions, genetics has enabled new entities to be discovered and their contours to be better defined,
- 33 new congenital myopathies, grouped under the acronym CMYO adopted at an ENMC workshop, have been reported in recent years,
- the two authors of this review article on CMYO emphasise the new pathophysiological mechanisms involved,
- new terms such as âchaperonopathiesâ, âtriadopathiesâ and âsatellite cell-related pathologiesâ are emerging.
This work will be very useful to the clinical myologist in finding his way through this very heterogeneous group of muscle pathologies.
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