Neurol. praxi. 2012;13(4):188-194

Congenital myopathies

MUDr.Josef Kraus, CSc.1, assoc.prof.Jiří Vajsar MD, MSc, FRCPC2, doc.MUDr.Josef Zámečník, Ph.D.3
1 Klinika dětské neurologie, UK 2. LF a FN Motol, Praha
2 Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada
3 Ústav patologie a molekulární medicíny, UK 2. LF a FN Motol, Praha

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.

Keywords: congenital myopathy, muscle biopsy, enzyme histochemistry, ultra structure, gene mutation

Published: July 31, 2012  Show citation

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Kraus J, Vajsar FRCPC J, Zámečník J. Congenital myopathies. Neurol. praxi. 2012;13(4):188-194.
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