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.

Ology Medical Education is a global provider of independent medical education. Its mission is to provide healthcare professionals with high-quality, trusted medical information with the aim of helping optimize patient care.

No responsibility is assumed by Ology Medical Education for any injury and/or damage to persons or property through negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. Because of rapid advances in the medical sciences, Ology Medical Education recommends that independent verification of diagnoses and drug dosages should be made. The opinions expressed do not reflect those of Ology Medical Education or the sponsor. Ology Medical Education assumes no liability for any material contained herein.