Journal
JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY
Volume 29, Issue 6-8, Pages 231-238Publisher
SPRINGER
DOI: 10.1007/s10974-008-9155-8
Keywords
Congenital myopathy; Nemaline myopathy; Core myopathy; Myotubular myopathy; Congenital fibre type disproportion
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Funding
- MDA (USA)
- National Commissioning Group of UK
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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.
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