Congenital myopathies at their molecular dawning

doi:10.1002/mus.10322

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Article

Congenital myopathies at their molecular dawning

4 Mar 2003

Abstract excerpt

The introduction and application of molecular techniques have commenced to influence and alter the nosology of congenital myopathies. Long-known entities such as nemaline myopathies, core diseases, and desmin-related myopathies have now been found to be caused by unequivocal mutations. Several of these mutations and their genes have been identified by analyzing aggregates of proteins within muscle fibers as a...

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PMID: 12707973
DOI: 10.1002/mus.10322

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