Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot (Q84423986)

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5 February 2020

title

Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot (English)

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Emery-Dreifuss muscular dystrophy

5 February 2020

main subject

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2

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Peter S Zammit

7

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author name string

Charlotte A Brown

1

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5 February 2020

Kevin Felice

3

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Matthew N Meriggioli

4

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Mark Tarnopolsky

5

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Matthew Bower

6

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Jerry R Mendell

8

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Juliet A Ellis

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publication date

23 June 2011

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Journal of Human Genetics

5 February 2020

published in

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volume

56

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issue

8

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page(s)

589-594

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cites work

Emery-Dreifuss syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Emery-Dreifuss muscular dystrophy - a 40 year retrospective

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Presence of emerinopathy in cases of rigid spine syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

The muscular dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Unusual type of benign x-linked muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

The Emery-Dreifuss Muscular Dystrophy Mutation Database

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Limb-Girdle Muscular Dystrophy Due to Emerin Gene Mutations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

X-linked nonsyndromic sinus node dysfunction and atrial fibrillation caused by emerin mutation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

De novo LMNA mutations cause a new form of congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Direct interaction between emerin and lamin A

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Novel mutations in the emerin gene in Israeli families

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Mouse models of the laminopathies.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Hypermutable non-synonymous sites are under stronger negative selection

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Neutral Substitutions Occur at a Faster Rate in Exons Than in Noncoding DNA in Primate Genomes

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

The Sequence of the Human Genome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.65

7 January 2021

Identifiers

DOI

10.1038/JHG.2011.65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21697856%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

1 reference