Literature DB >> 9452114

A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.

K Häffner1, A Speer, C Hübner, T Voit, K Oexle.   

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Year:  1998        PMID: 9452114     DOI: 10.1002/humu.1380110193

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


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  4 in total

1.  Calpainopathy-a survey of mutations and polymorphisms.

Authors:  I Richard; C Roudaut; A Saenz; R Pogue; J E Grimbergen; L V Anderson; C Beley; A M Cobo; C de Diego; B Eymard; P Gallano; H B Ginjaar; A Lasa; C Pollitt; H Topaloglu; J A Urtizberea; M de Visser; A van der Kooi; K Bushby; E Bakker; A Lopez de Munain; M Fardeau; J S Beckmann
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

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

Authors:  L V Anderson; K Davison; J A Moss; I Richard; M Fardeau; F M Tomé; C Hübner; A Lasa; J Colomer; J S Beckmann
Journal:  Am J Pathol       Date:  1998-10       Impact factor: 4.307

3.  Transcriptional and translational effects of intronic CAPN3 gene mutations.

Authors:  Anna Chiara Nascimbeni; Marina Fanin; Elisabetta Tasca; Corrado Angelini
Journal:  Hum Mutat       Date:  2010-09       Impact factor: 4.878

4.  Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.

Authors:  Evelina Siavrienė; Gunda Petraitytė; Birutė Burnytė; Aušra Morkūnienė; Violeta Mikštienė; Tautvydas Rančelis; Algirdas Utkus; Vaidutis Kučinskas; Eglė Preikšaitienė
Journal:  BMC Musculoskelet Disord       Date:  2021-12-04       Impact factor: 2.362

  4 in total

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