Potential genetic cause of contractural myopathy revealed by whole exome sequencing

Missense variants in the LOXL4 gene – involved in the synthesis, stabilization, and maintenance of the extracellular matrix (ECM) – have been identified as a likely cause of contractural myopathy.

At WMS 2020, Dr Enzo Cohen from INSERM, the National Institute of Health and Medical Research in Paris, France, reported on investigation of a young patient with an atypical clinical presentation of congenital arthrogryposis.

The patient showed distal hyperlaxity, proximal muscle deficit, dysphonia, dysphagia, mild ptosis, and preserved respiratory function.