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Myofibrillar myopathies

3 Sept 2008

Abstract excerpt

PURPOSE OF REVIEW: The aim of this communication is to provide an up-to-date overview of myofibrillar myopathies. RECENT FINDINGS: The most important recent advance in the myofibrillar myopathies has been the discovery that mutations in Z band alternatively spliced PDZ-containing protein and filamin C, as well as in desmin, alphaB-crystallin and myotilin, result in similar pathologic alterations in skeletal...

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PMID: 18769253
DOI: 10.1097/wco.0b013e32830a752b

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