Gene, Cell and Tissue

Published by: Kowsar

Novel LDB3 Mutation in a Patient With Autosomal Dominant Myofibrillar Myopathy

Farah Talebi 1 , Farideh Ghanbari 1 , * and Javad Mohammadi Asl 2
Authors Information
1 Department of Genetic, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, IR Iran
2 Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, IR Iran
Article information
  • Gene, Cell and Tissue: January 01, 2016, 3 (1); e34601
  • Published Online: January 2, 2016
  • Article Type: Case Report
  • Received: November 14, 2015
  • Revised: November 17, 2015
  • Accepted: November 19, 2015
  • DOI: 10.17795/gct-34601

To Cite: Talebi F, Ghanbari F, Mohammadi Asl J. Novel LDB3 Mutation in a Patient With Autosomal Dominant Myofibrillar Myopathy, Gene Cell Tissue. 2016 ; 3(1):e34601. doi: 10.17795/gct-34601.

Copyright © 2016, Zahedan University of Medical Sciences. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Case Presentation
3. Discussion
  • 1. Olive M, Kley RA, Goldfarb LG. Myofibrillar myopathies: new developments. Curr Opin Neurol. 2013; 26(5): 527-35[DOI][PubMed]
  • 2. Schroder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol. 2009; 19(3): 483-92[DOI][PubMed]
  • 3. Ferrer I, Olivé M. Molecular pathology of myofibrillar myopathies. Expert Rev Mol Med. 2008; 10
  • 4. Goldfarb LG, Park KY, Cervenakova L, Gorokhova S, Lee HS, Vasconcelos O, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet. 1998; 19(4): 402-3[DOI][PubMed]
  • 5. Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet. 1998; 20(1): 92-5[DOI][PubMed]
  • 6. Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology. 2004; 62(8): 1363-71[PubMed]
  • 7. Vorgerd M, van der Ven PF, Bruchertseifer V, Lowe T, Kley RA, Schroder R, et al. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet. 2005; 77(2): 297-304[DOI][PubMed]
  • 8. Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol. 2005; 57(2): 269-76[DOI][PubMed]
  • 9. Selcen D, Bromberg MB, Chin SS, Engel AG. Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. Neurology. 2011; 77(22): 1951-9[DOI][PubMed]
  • 10. Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol. 2009; 65(1): 83-9[DOI][PubMed]
  • 11. Sato T, Hayashi YK, Oya Y, Kondo T, Sugie K, Kaneda D, et al. DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions. Neuromuscul Disord. 2013; 23(3): 269-76[DOI][PubMed]
  • 12. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988; 16(3): 1215[PubMed]
  • 13. Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, et al. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol. 2003; 42(11): 2014-27[PubMed]
  • 14. Olive M, Odgerel Z, Martinez A, Poza JJ, Bragado FG, Zabalza RJ, et al. Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. Neuromuscul Disord. 2011; 21(8): 533-42[DOI][PubMed]
  • 15. Lin X, Ruiz J, Bajraktari I, Ohman R, Banerjee S, Gribble K, et al. Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy. J Biol Chem. 2014; 289(19): 13615-26[DOI][PubMed]
  • 16. Leung MC, Hitchen PG, Ward DG, Messer AE, Marston SB. Z-band alternatively spliced PDZ motif protein (ZASP) is the major O-linked beta-N-acetylglucosamine-substituted protein in human heart myofibrils. J Biol Chem. 2013; 288(7): 4891-8[DOI][PubMed]
  • 17. Faulkner G, Pallavicini A, Formentin E, Comelli A, Ievolella C, Trevisan S, et al. ZASP: a new Z-band alternatively spliced PDZ-motif protein. J Cell Biol. 1999; 146(2): 465-75[PubMed]
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

Search Relations:



Create Citiation Alert
via Google Reader

Readers' Comments