Rhabdomyolysis is a heterogeneous group of pathologies at the genetic level. An international consortium reports:
- for the first time the involvement of the MLIP gene, which encodes a nuclear membrane protein interacting with muscle lamin type A / C, in seven patients from six separate families with rhabdomyolysis without a molecular signature;
- a clinical picture that includes, since early childhood, acute episodes of rhabdomyolysis associated with exertional myalgia and a persistent elevation of basal CPK levels;
- muscle lesions observed under a microscope varying in intensity and non-specific.
