Distal myopathies

Abstract

Distal myopathies are frequently encountered in the Nordic countries, and are now being increasingly recognized elsewhere. Three new descriptions of distal myopathy phenotypes have been published in the past year. At the same time there has been considerable progress in molecular genetics and in understanding the molecular pathophysiology underlying distal myopathies. Membrane-associated dysferlin, which was the first gene in which mutations were identified, is shown to cause a distal phenotype. The ability to make a molecular diagnosis has increased awareness of dysferlinopathy - Miyoshi myopathy. Since most entities have been linked to specific chromosomal loci, it is likely that other distal myopathies will soon be better recognized by their molecular genetic definitions.