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The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing ze...

The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing ze...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_068635897b254f50abb2acf06a148e6c

The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish

About this item

Full title

The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish

Publisher

England: The Company of Biologists Ltd

Journal title

Disease models & mechanisms, 2014-01, Vol.7 (1), p.157-161

Language

English

Formats

Publication information

Publisher

England: The Company of Biologists Ltd

More information

Scope and Contents

Contents

DNM2 is a ubiquitously expressed GTPase that regulates multiple subcellular processes. Mutations in DNM2 are a common cause of centronuclear myopathy, a severe disorder characterized by altered skeletal muscle structure and function. The precise mechanisms underlying disease-associated DNM2 mutations are unresolved. We examined the common DNM2-S619...

Alternative Titles

Full title

The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_068635897b254f50abb2acf06a148e6c

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_068635897b254f50abb2acf06a148e6c

Other Identifiers

ISSN

1754-8403

E-ISSN

1754-8411

DOI

10.1242/dmm.012286

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