Literature DB >> 16001438

550delA mutation in the calpain 3 (CAPN3) gene: DMD/BMD, SMA, or LGMD2A--clinically misdiagnosed cases.

Bilyana Georgieva, Albena Todorova, Ivailo Tournev, Vanyo Mitev, Panagiotis Plageras, Ivo Kremensky.   

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Year:  2005        PMID： 16001438     DOI： 10.1002/ajmg.a.30809

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.

Authors:  Albena Todorova; Bilyana Georgieva; Ivailo Tournev; Tihomir Todorov; Nadja Bogdanova; Vanyo Mitev; Clemens R Mueller; Ivo Kremensky; Jürgen Horst
Journal:  Neurogenetics       Date:  2007-02-23       Impact factor: 3.017

2.  Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Authors:  Inna Inashkina; Eriks Jankevics; Janis Stavusis; Inta Vasiljeva; Kristine Viksne; Ieva Micule; Jurgis Strautmanis; Maruta S Naudina; Loreta Cimbalistiene; Vaidutis Kucinskas; Astrida Krumina; Algirdas Utkus; Birute Burnyte; Ausra Matuleviciene; Baiba Lace
Journal:  BMC Musculoskelet Disord       Date:  2016-05-04       Impact factor: 2.362

3.  Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia.

Authors:  Stojan Peric; Jelena Stevanovic; Katherine Johnson; Ana Kosac; Marina Peric; Marija Brankovic; Ana Marjanovic; Milena Jankovic; Bojan Banko; Sanja Milenkovic; Milica Durdic; Ivo Bozovic; Jelena Nikodinovic Glumac; Dragana Lavrnic; Ruzica Maksimovic; Vedrana Milic-Rasic; Vidosava Rakocevic-Stojanovic
Journal:  Acta Myol       Date:  2019-09-01
  3 in total

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