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Involvement of tissues other than skeletal muscle 

Involvement of tissues other than skeletal muscle
Chapter:
Involvement of tissues other than skeletal muscle
Author(s):

Alan E H Emery

, Francesco Muntoni

, and Rosaline Quinlivan

DOI:
10.1093/med/9780199681488.003.0006
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date: 23 October 2019

The muscular dystrophies have often been described as primary diseases of muscle. The term ‘primary’, in this context, could have two interpretations, either that muscle is the most obviously affected tissue, which is certainly true, or that the fundamental molecular defect is expressed only in skeletal muscle, which is patently not true. In recent years, it has been shown that significant abnormalities can be found in a variety of tissues, quite apart from skeletal muscle. This is perhaps not unexpected, since the abnormal gene is transcribed in a variety of cells of the body. The variety of manifestations of a genetic disease can result from the pleiotropic effects of a single gene or, at the molecular level, either from the involvement of adjacent genes that control other phenotypic features or from different point mutations within the same gene.

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