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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15 March 2018

author name string

Morten Duno

1

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Marie-Louise Sveen

2

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Marianne Schwartz

3

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John Vissing

4

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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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https://scigraph.springernature.com/pub.10.1038/ejhg.2008.47

exact match

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cites work

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

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

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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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Correlations between clinical severity, genotype and muscle pathology in 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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Calpain-3 mutations in Turkey

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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