(Q50547039)

15 March 2018

title

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark. (English)

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15 March 2018

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Morten Duno

1

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15 March 2018

Marie-Louise Sveen

series ordinal

2

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15 March 2018

Marianne Schwartz

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3

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15 March 2018

John Vissing

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4

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15 March 2018

publication date

12 March 2008

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15 March 2018

European Journal of Human Genetics

published in

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15 March 2018

volume

16

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15 March 2018

issue

8

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15 March 2018

page(s)

935-940

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15 March 2018

66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands

cites work

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

21 January 2018

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Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

The frequency of limb girdle muscular dystrophy 2A in northeastern Italy

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

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Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes

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Clinical variability in calpainopathy: what makes the difference?

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Calpainopathy-a survey of mutations and polymorphisms

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

21 January 2018

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Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome

21 January 2018

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Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

Calpain-3 mutations in Turkey

21 January 2018

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The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

21 January 2018

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7 January 2021

Novel mutations in the calpain 3 gene in Germany

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

7 January 2021

Screening of the CAPN3 gene in patients with possible LGMD2A

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https://api.crossref.org/works/10.1038%2FEJHG.2008.47

7 January 2021

Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

7 January 2021

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

7 January 2021

Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

7 January 2021

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

7 January 2021

A family with McLeod syndrome and calpainopathy with clinically overlapping diseases

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.47

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.47

1 reference

15 March 2018

Dimensions Publication ID

1049639655

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1 reference

15 March 2018