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Congenital myopathies – a comprehensive update of recent advancements
Author(s) -
Sharma M. C.,
Jain D.,
Sarkar C.,
Goebel H. H.
Publication year - 2009
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.2008.01126.x
Subject(s) - pathology , muscle disease , medicine , h&e stain , stain , immunohistochemistry , disease , staining
The congenital myopathies are relatively newly discovered compared with other categories of muscle diseases. Current research continues to clarify and classify the congenital myopathies. These pose a diagnostic problem and cannot be diagnosed by routine hematoxylin and eosin stain. A lot of special techniques are required to diagnose them correctly and it’s various subtypes. The disease specific structural changes seen in the muscle are detected by enzyme histochemistry, immunohistochemistry and electron microscopy. Through this review we provide an up‐to‐date analysis of congenital myopathies including clinical and pathologic aspects.