What's new in congenital myopathies?

  title={What's new in congenital myopathies?},
  author={Kathryn N North},
  journal={Neuromuscular disorders : NMD},
  volume={18 6},
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… CONTINUE READING

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