cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark (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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4

John Vissing

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15 March 2018

author name string

Morten Duno

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1

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15 March 2018

Marie-Louise Sveen

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2

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Marianne Schwartz

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3

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publication date

12 March 2008

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European Journal of Human Genetics

published in

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volume

16

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issue

8

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page(s)

935-940

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

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

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

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

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

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

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

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

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

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

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

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7 January 2021

Novel mutations in the calpain 3 gene in Germany

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7 January 2021

Screening of the CAPN3 gene in patients with possible LGMD2A

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7 January 2021

Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients

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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

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7 January 2021

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

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7 January 2021

Improved splice site detection in Genie

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7 January 2021

A family with McLeod syndrome and calpainopathy with clinically overlapping diseases

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7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.47

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15 March 2018

Dimensions Publication ID

1049639655

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15 March 2018