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Acta Neuropathologica

, Volume 125, Issue 6, pp 917–919 | Cite as

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

  • Matthew Henderson
  • Liesbeth De Waele
  • Judith Hudson
  • Michelle Eagle
  • Caroline Sewry
  • Julie Marsh
  • Richard Charlton
  • Langping He
  • Emma L. Blakely
  • Iain Horrocks
  • William Stewart
  • Robert W. Taylor
  • Cheryl Longman
  • Kate Bushby
  • Rita Barresi
Correspondence

Desmin is a muscle-specific intermediate filament that provides maintenance of cellular integrity and force transmission [2]. DES gene mutations cause a spectrum of adult-onset disorders, ranging from myopathies with and without cardiac involvement to cardiomyopathy without skeletal muscle involvement [3]. Distal and proximal weakness involving upper and lower limbs muscles are observed in most patients [9]. Desminopathies are usually inherited in an autosomal dominant fashion, predominantly with missense mutations. However, very few families with a recessive mode of inheritance have also been recognized [2]. Desmin immunostaining of normal skeletal muscle shows uniform sarcoplasmic and subsarcolemmal localization, while affected muscles display cytoplasmic aggregates of misfolded filaments and disruption of the myofibrillar apparatus rather than absence of protein [2], so that individuals with desmin mutations are frequently categorized within the group of disorders known as...

Keywords

Force Vital Capacity Mitochondrial Myopathy Scapular Wing Copy Number Abnormality Congenital Ptosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

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.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Matthew Henderson
    • 1
  • Liesbeth De Waele
    • 2
  • Judith Hudson
    • 2
  • Michelle Eagle
    • 2
  • Caroline Sewry
    • 3
  • Julie Marsh
    • 1
  • Richard Charlton
    • 1
  • Langping He
    • 4
  • Emma L. Blakely
    • 4
  • Iain Horrocks
    • 5
  • William Stewart
    • 6
  • Robert W. Taylor
    • 4
  • Cheryl Longman
    • 7
  • Kate Bushby
    • 2
  • Rita Barresi
    • 1
    • 2
  1. 1.NSCT Diagnostic and Advisory Service for Rare Neuromuscular DiseasesMuscle Immunoanalysis Unit, Dental HospitalNewcastle upon TyneUK
  2. 2.Institute of Genetic MedicineNewcastle UniversityNewcastle upon TyneUK
  3. 3.Dubowitz Neuromuscular Centre, Institute of Child Health, London and Centre for Inherited Neuromuscular DiseasesRJAH Orthopaedic HospitalOswestryUK
  4. 4.Wellcome Trust Centre for Mitochondrial Research, Newcastle UniversityNewcastle upon TyneUK
  5. 5.Ferguson Smith Centre for Clinical Genetics, Royal Hospital for Sick Children Yorkhill HospitalsGlasgowUK
  6. 6.Department of NeuropathologySouthern General HospitalGlasgowUK
  7. 7.West of Scotland Regional Genetics Service, Southern General HospitalGlasgowUK

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