New X-linked distal myopathy identified

A new X-linked recessive form of distal myopathy (XLDM) caused by mutations in the gene encoding small muscle protein X (SMPX) has been documented and reported.

Researchers, including clinicians and molecular geneticists, from Folkhälsan Research Center, University of Helsinki, Finland, identified the involvement of an SMPX gene mutation in six unrelated male patients, in four countries, with an adult-onset distal myopathy.