What's new in congenital myopathies?

Abstract

The congenital myopathies are defined by distinctive morphologic abnormalities in skeletal muscle. Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes, with increasing availability of genetic and prenatal diagnosis. Identification of the disease genes, in combination with a reappraisal of muscle pathology and the development of tissue culture and animal models is now providing insights into disease pathogenesis and, for the first time, suggesting avenues for the development of specific therapies. This review highlights some of the major recent advances in each of these areas and demonstrates how a morphological classification of the congenital myopathies into subgroups remains useful for future research into gene discovery and understanding of disease mechanism.