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Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities

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Acknowledgments

We thank the patients and their family for their kind cooperation and Dr. Anna Sarkozy for critical reading of the manuscript. Diagnostic facilities at the Newcastle Muscle Centre are supported by the National Specialized Commissioning Team (NSCT) for Rare Neuromuscular Disorders and Rare Mitochondrial Diseases of Adults and Children. RWT and KB are funded by the MRC Centre for Neuromuscular Diseases.

Conflict of interest

The authors declare that they have no conflicts of interest.

Author information

Authors and Affiliations

  1. NSCT Diagnostic and Advisory Service for Rare Neuromuscular Diseases, Muscle Immunoanalysis Unit, Dental Hospital, Richardson Road, Newcastle upon Tyne, NE2 4AZ, UK

    Matthew Henderson, Julie Marsh, Richard Charlton & Rita Barresi

  2. Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK

    Liesbeth De Waele, Judith Hudson, Michelle Eagle, Kate Bushby & Rita Barresi

  3. Dubowitz Neuromuscular Centre, Institute of Child Health, London and Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, UK

    Caroline Sewry

  4. Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK

    Langping He, Emma L. Blakely & Robert W. Taylor

  5. Ferguson Smith Centre for Clinical Genetics, Royal Hospital for Sick Children Yorkhill Hospitals, Glasgow, UK

    Iain Horrocks

  6. Department of Neuropathology, Southern General Hospital, Glasgow, UK

    William Stewart

  7. West of Scotland Regional Genetics Service, Southern General Hospital, Glasgow, UK

    Cheryl Longman

Authors
  1. Matthew Henderson
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  2. Liesbeth De Waele
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  3. Judith Hudson
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  4. Michelle Eagle
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  5. Caroline Sewry
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  6. Julie Marsh
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  7. Richard Charlton
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  8. Langping He
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  9. Emma L. Blakely
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  10. Iain Horrocks
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  11. William Stewart
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  12. Robert W. Taylor
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  13. Cheryl Longman
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  14. Kate Bushby
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  15. Rita Barresi
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Corresponding author

Correspondence to Rita Barresi.

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Henderson, M., De Waele, L., Hudson, J. et al. Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities. Acta Neuropathol 125, 917–919 (2013). https://doi.org/10.1007/s00401-013-1113-x

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  • DOI: https://doi.org/10.1007/s00401-013-1113-x

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