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Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8cc6ba4097cf4c9bb514e650b9af4952

Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

About this item

Full title

Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

Publisher

England: BioMed Central Ltd

Journal title

Acta neuropathologica communications, 2018-05, Vol.6 (1), p.40-10, Article 40

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are responsible for approximately 50% of nemaline myopathy cases. Despite the severity of the disease there is n...

Alternative Titles

Full title

Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_8cc6ba4097cf4c9bb514e650b9af4952

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8cc6ba4097cf4c9bb514e650b9af4952

Other Identifiers

ISSN

2051-5960

E-ISSN

2051-5960

DOI

10.1186/s40478-018-0546-9

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