Current Neurology and Neuroscience Reports

, Volume 12, Issue 2, pp 165–174 | Cite as

Congenital Myopathies: An Update

  • Jessica R. Nance
  • James J. Dowling
  • Elizabeth M. Gibbs
  • Carsten G. BönnemannEmail author
Pediatric Neurology (R Packer, Section Editor)


Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy. Recent evidence of overlapping clinical and histological features between the classical forms and their different genetic entities suggests that there may be shared pathomechanisms between the congenital myopathies. Animal models, especially mouse and zebrafish, have been especially helpful in elucidating such pathomechanisms associated with the congenital myopathies and provide models in which future therapies can be investigated.


Congenital myopathy Nemaline rod myopathy Core myopathy Central core disease Multiminicore disease Centronuclear myopathy ACTA1 NEB TMP2 TPM3 TNNT1 Cofilin 2 KTBDB13 RYR1 SEPN1 MTM1 DNM2 BIN1 



CGB’s research is supported by the Intramural Research Program of the National Institute of Neurological Disorders and Stroke, National Institutes of Health, JD is supported by an NIH K08 award (NIH1K08AR054835). We apologize to researchers whose work could not be cited due to this reviews restrictions in length and focus.


No potential conflicts of interest relevant to this article were reported.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC (outside the USA) 2012

Authors and Affiliations

  • Jessica R. Nance
    • 1
  • James J. Dowling
    • 2
  • Elizabeth M. Gibbs
    • 3
  • Carsten G. Bönnemann
    • 4
    Email author
  1. 1.Department of NeurologyChildren’s National Medical CenterWashingtonUSA
  2. 2.Departments of Pediatrics, Neurology, and NeuroscienceUniversity of Michigan Medical CenterAnn ArborUSA
  3. 3.Departments of Neurology and NeuroscienceUniversity of Michigan Medical CenterAnn ArborUSA
  4. 4.Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke/NIHPorter Neuroscience Research CenterBethesdaUSA

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