Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. (Q34167331)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21357678%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy (English)

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23 January 2020

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3

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23 January 2020

Alan H. Beggs

5

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23 January 2020

author name string

Coen A C Ottenheijm

1

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23 January 2020

Michael W Lawlor

2

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23 January 2020

Henk Granzier

4

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23 January 2020

publication date

28 February 2011

1 reference

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23 January 2020

published in

Human Molecular Genetics

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23 January 2020

volume

20

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23 January 2020

page(s)

2015-2025

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23 January 2020

issue

10

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describes a project that uses

23 January 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3080611/fullTextXML

inferred from PubMed Central ID database lookup

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Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion

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Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscle

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Clinical course correlates poorly with muscle pathology in nemaline myopathy.

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A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production

5 July 2018

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Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

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A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

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5 July 2018

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5 July 2018

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5 July 2018

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Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

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21 January 2018

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21 January 2018

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Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction

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PubMed

https://pubmed.ncbi.nlm.nih.gov/21357678

12 December 2020

inferred from PubMed ID database lookup

Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21357678

12 December 2020

inferred from PubMed ID database lookup

Skeletal muscle of mice with a mutation in slow alpha-tropomyosin is weaker at lower lengths

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21357678

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDR084

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21357678%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21357678%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference