Abstract
The congenital myopathies are defined by distinctive morphologic abnormalities in skeletal muscle. Over the past decade there have been major advances in uncovering the genetic basis of many congenital myopathy subtypes.
Identification of the disease genes, in combination with better understanding of the molecular mechanisms is now providing insights into disease pathogenesis. It further provides basis for the development of new procedures and, for the first time, it suggests avenues for the development of specific therapies.