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Current Neurology and Neuroscience Reports
Published in: Current Neurology and Neuroscience Reports 2/2012

01-04-2012 | Pediatric Neurology (R Packer, Section Editor)

Congenital Myopathies: An Update

Authors: Jessica R. Nance, James J. Dowling, Elizabeth M. Gibbs, Carsten G. Bönnemann

Published in: Current Neurology and Neuroscience Reports | Issue 2/2012

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Abstract

Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy. Recent evidence of overlapping clinical and histological features between the classical forms and their different genetic entities suggests that there may be shared pathomechanisms between the congenital myopathies. Animal models, especially mouse and zebrafish, have been especially helpful in elucidating such pathomechanisms associated with the congenital myopathies and provide models in which future therapies can be investigated.
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Metadata
Title
Congenital Myopathies: An Update
Authors
Jessica R. Nance
James J. Dowling
Elizabeth M. Gibbs
Carsten G. Bönnemann
Publication date
01-04-2012
Publisher
Current Science Inc.
Published in
Current Neurology and Neuroscience Reports / Issue 2/2012
Print ISSN: 1528-4042
Electronic ISSN: 1534-6293
DOI
https://doi.org/10.1007/s11910-012-0255-x

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