Literature DB >> 10838250

A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.

P Dinçer1, C G Bönnemann, O Erdir Aker, Z Akçoren, V Nigro, L M Kunkel, H Topalolu.   

Abstract

We present the first Turkish family with delta-sarcoglycanopathy (LGMD2F). A novel truncating mutation (E93X) in exon 3 was identified in the gene. The index case showed a severe course and there was no cardiac involvement. LGMD2F seems to be rare in our population.

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Year:  2000        PMID： 10838250     DOI： 10.1016/s0960-8966(00)00100-0

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  8 in total

1.  A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein.

Authors:  Telma L F Gouveia; Patrícia M Kossugue; Julia F Paim; Mayana Zatz; Louise V B Anderson; Vincenzo Nigro; Mariz Vainzof
Journal:  J Mol Med (Berl)       Date:  2007-01-30       Impact factor: 4.599

2.  Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Authors:  Jorge Alonso-Pérez; Lidia González-Quereda; Claudio Bruno; Chiara Panicucci; Afagh Alavi; Shahriar Nafissi; Yalda Nilipour; Edmar Zanoteli; Lucas Michielon de Augusto Isihi; Béla Melegh; Kinga Hadzsiev; Nuria Muelas; Juan J Vílchez; Mario Emilio Dourado; Naz Kadem; Gultekin Kutluk; Muhammad Umair; Muhammad Younus; Elena Pegorano; Luca Bello; Thomas O Crawford; Xavier Suárez-Calvet; Ana Töpf; Michela Guglieri; Chiara Marini-Bettolo; Pia Gallano; Volker Straub; Jordi Díaz-Manera
Journal:  Brain       Date:  2022-04-18       Impact factor: 15.255

3.  A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.

Authors:  Satu Kärkkäinen; Raija Miettinen; Petri Tuomainen; Päivi Kärkkäinen; Tiina Heliö; Eeva Reissell; Maija Kaartinen; Lauri Toivonen; Markku S Nieminen; Johanna Kuusisto; Markku Laakso; Keijo Peuhkurinen
Journal:  J Mol Med (Berl)       Date:  2003-10-15       Impact factor: 4.599

4.  Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?

Authors:  Ralf Bauer; Judith Hudson; Harald D Müller; Clemens Sommer; Gabriele Dekomien; John Bourke; Daniel Routledge; Kate Bushby; Jörg Klepper; Volker Straub
Journal:  Eur J Hum Genet       Date:  2009-03-04       Impact factor: 4.246

Review 5.  Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves.

Authors:  Josef Finsterer; Claudia Stöllberger
Journal:  Korean Circ J       Date:  2016-03-21       Impact factor: 3.243

6.  A Haplotype of Two Novel Polymorphisms in δ-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid Population.

Authors:  Jie Chen; Ye Jin; Hong Wang; Sisi Wei; Dan Chen; Li Ying; Qing Zhou; Gang Li; Joyce Li; Jimin Gao; Naoya Kato; Wei Hu; Yigang Li; Yuepeng Wang
Journal:  PLoS One       Date:  2015-12-31       Impact factor: 3.240

7.  SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report.

Authors:  Muhammad Younus; Farooq Ahmad; Erum Malik; Muhammad Bilal; Mehran Kausar; Safdar Abbas; Shabnam Shaheen; Mohib Ullah Kakar; Majid Alfadhel; Muhammad Umair
Journal:  Front Genet       Date:  2019-01-23       Impact factor: 4.599

8.  Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.

Authors:  Ivana F Audhya; Antoinette Cheung; Shelagh M Szabo; Emma Flint; Conrad C Weihl; Katherine L Gooch
Journal:  J Neuromuscul Dis       Date:  2022
  8 in total

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