Skip to main content

Advertisement

SpringerLink
Log in

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods

  • Letter to the Editors
  • Published:
Journal of Neurology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

References

  1. Hedberg-Oldfors C, Oldfors A (2015) Polyglucosan storage myopathies. Mol Asp Med 46:85–100

    Article  CAS  Google Scholar 

  2. Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A (2010) Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. N Engl J Med 362:1203–1210

    Article  CAS  PubMed  Google Scholar 

  3. Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C et al (2014) A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol 76:891–898

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Luo S, Zhu W, Yue D, Lin J, Wang Y, Zhu Z et al (2015) Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation. Neuromuscul Disord 25:780–785

    Article  PubMed  Google Scholar 

  5. Colombo I, Pagliarani S, Testolin S, Cinnante CM, Fagiolari G, Ciscato P et al (2015) Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation. J Neurol Neurosurg Psychiatry. doi:10.1136/jnnp-2015-310553

    PubMed  Google Scholar 

  6. Akman HO, Aykit Y, Amuk OC, Malfatti E, Romero NB, Maioli MA et al (2015) Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. Neuromuscul Disord 26:16–20

    Article  PubMed  Google Scholar 

  7. Fanin M, Torella A, Savarese M, Nigro V, Angelini C (2015) GYG1 gene mutations in a family with polyglucosan body myopathy. Neurol Genet 1:e21

    Article  PubMed  PubMed Central  Google Scholar 

  8. Evila A, Arumilli M, Udd B, Hackman P (2015) Targeted next-generation sequencing assay for detection of mutations in primary myopathies. Neuromuscul Disord 26:7–15

    Article  PubMed  Google Scholar 

  9. Chahin N, Selcen D, Engel AG (2005) Sporadic late onset nemaline myopathy. Neurology 65:1158–1164

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

This study was supported by the Swedish Research Council (AO).

Author information

Authors and Affiliations

  1. Don Carlo Gnocchi ONLUS Foundation, Milan, Italy

    Giorgio Tasca

  2. Unit of Neuromuscular Disorders, Laboratory of Molecular Medicine, Bambino Gesu’ Children’s Research Hospital, Rome, Italy

    Fabiana Fattori & Enrico Bertini

  3. Institute of Neurology, Catholic University School of Medicine, Largo A. Gemelli 8, 00168, Rome, Italy

    Mauro Monforte, Mario Sabatelli & Enzo Ricci

  4. Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden

    Carola Hedberg-Oldfors & Anders Oldfors

  5. Department of Medical Genetics, Folkhälsan Institute of Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland

    Bjarne Udd

  6. Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland

    Bjarne Udd

  7. Neurology Department, Vaasa Central Hospital, Vaasa, Finland

    Bjarne Udd

  8. Department of Pathology, Bambino Gesu’ Children’s Research Hospital, Rome, Italy

    Renata Boldrini

Authors
  1. Giorgio Tasca
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Fabiana Fattori
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mauro Monforte
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Carola Hedberg-Oldfors
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Mario Sabatelli
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Bjarne Udd
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Renata Boldrini
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Enrico Bertini
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Enzo Ricci
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Anders Oldfors
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Giorgio Tasca.

Ethics declarations

Conflicts of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Ethical standards

All procedures performed were in accordance with the ethical standards stated in the Declaration of Helsinki.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (PDF 32 kb)

Supplementary material 2 (PDF 553 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Tasca, G., Fattori, F., Monforte, M. et al. Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods. J Neurol 263, 2133–2135 (2016). https://doi.org/10.1007/s00415-016-8268-z

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-016-8268-z

Keywords

Search

Navigation