Pathological defects in congenital myopathies

  • Caroline A. SewryEmail author
Review Paper


Congenital myopathies are a molecularly, pathologically and clinically heterogenous group of disorders defined by hypotonia and muscle weakness, that usually present at birth or early childhood, in association with a characteristic morphological defect. The most common morphological defects are nemaline rods, cores of varying size, central nuclei, and type I fibre hypotrophy, with or without an additional abnormality. The defective genes responsible for many of the congenital myopathies are known, but there is considerable clinico-pathological overlap. In particular, defects in more than one gene are associated with the presence of the same pathological feature, while defects in the same gene can result in more than one pathological feature. Understanding the complexities of these spectra is paramount to the elucidation of pathogenesis, and to the development of therapies.


Congenital myopathy Nemaline myopathy Core myopathy Myotubular myopathy Congenital fibre type disproportion 



The financial support of the National Commissioning Group of UK to the Dubowitz Centre for Congenital Muscular Dystrophies and Congenital Myopathies is gratefully acknowledged, together with a grant from the MDA (USA). I am also grateful for the collaboration of a number of colleagues, in particular Professor Francesco Muntoni, and Dr Heinz Jungbluth.


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Copyright information

© Springer Science+Business Media B.V. 2008

Authors and Affiliations

  1. 1.Dubowitz Neuromuscular CentreInstitute of Child Health and Great Ormond Street HospitalLondonUK
  2. 2.Wolfson Centre for Inherited Neuromuscular DiseasesRJAH Orthopaedic HospitalOswestryUK

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