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Neurológia pre prax 4/2012
Congenital myopathies
The congenital myopathies are dened 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. Identication 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 rst time, it suggests avenues for the development of specic therapies.
Keywords: congenital myopathy, muscle biopsy, enzyme histochemistry, ultra structure, gene mutation.
