MLIP: a new autosomal recessive gene responsible for rhabdomyolysis

 

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.

 

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase. Lopes Abath Neto O, Medne L, Donkervoort S, et al. Brain. 2021 (Oct).