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Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and my...

Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and my...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1685113395

Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization

About this item

Full title

Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization

Publisher

United States: Public Library of Science

Journal title

PLoS genetics, 2014-09, Vol.10 (9), p.e1004605-e1004605

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

Proteins of the nuclear envelope (NE) are associated with a range of inherited disorders, most commonly involving muscular dystrophy and cardiomyopathy, as exemplified by Emery-Dreifuss muscular dystrophy (EDMD). EDMD is both genetically and phenotypically variable, and some evidence of modifier genes has been reported. Six genes have so far been l...

Alternative Titles

Full title

Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1685113395

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1685113395

Other Identifiers

ISSN

1553-7390

E-ISSN

1553-7404

DOI

10.1371/journal.pgen.1004605

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