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Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients

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Funding

This study was supported by Muscular Dystrophy UK and Myotonic Dystrophy Support Group (MDSG), UK and by the Polish National Science Center Grants: 2014/13/B/NZ5/03214, 2019/33/B/NZ5/02473 and 2020/39/B/NZ3/01811 (to M Wojciechowska). Muscular Dystrophy UK, MC3/1070 (to Saam Sedehizadeh).  

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Authors and Affiliations

  1. Department of Neurology, Queen’s Medical Centre, Nottingham University Hospitals NHS Trust, Nottingham, UK

    Saam Sedehizadeh & Paul Maddison

  2. Department of Molecular Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, 61-704, Poznan, Poland

    Marzena Wojciechowska

  3. School of Life Sciences, Queen’s Medical Centre, University of Nottingham, Nottingham, UK

    Ami Ketley & J. David Brook

Authors
  1. Saam Sedehizadeh
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  2. Marzena Wojciechowska
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  3. Ami Ketley
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  4. J. David Brook
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  5. Paul Maddison
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Corresponding author

Correspondence to Saam Sedehizadeh.

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Conflicts of interest

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

Ethical standards

The regional ethics committee approved the use of human participants for this study (Nottingham REC approval no. 13/EM/0173). Written informed consent was obtained from all participating patients.

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Sedehizadeh, S., Wojciechowska, M., Ketley, A. et al. Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients. J Neurol 269, 2784–2787 (2022). https://doi.org/10.1007/s00415-021-10917-8

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  • DOI: https://doi.org/10.1007/s00415-021-10917-8

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