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Article

Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy.

Human molecular genetics - 15 Sept 2012

Ruparelia Avnika A, Zhao Mo, Currie Peter D, Bryson-Richardson Robert J

Abstract excerpt

Myofibrillar myopathies are a group of muscle disorders characterized by the disintegration of skeletal muscle fibers and formation of sarcomeric protein aggregates. All the proteins known to be involved in myofibrillar myopathies localize to a region of the sarcomere known as the Z-disk, the site at which defects are first observed. Given the common cellular phenotype observed in this group of disorders, it is...

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Identifiers

PMID: 22706277
DOI: 10.1093/hmg/dds231

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