The genetic basis of neuromuscular disorders

Nawrotzki, Ralph, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Davies, Kay E. 1996. The genetic basis of neuromuscular disorders. Trends in Genetics 12 (8) , pp. 294-298. 10.1016/0168-9525(96)10033-0

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Abstract

In the last decade, our knowledge of human disease genes has been growing rapidly as a result of the availability of resources and techniques for mapping and sequencing the human genome. New disease genes are now reported almost weekly. This review illustrates how the identification of genes involved in neuromuscular disorders has led to the characterization of not only novel genes, but also of a variety of different types of genetic mutation. These observations, which include high deletion frequencies, unstable tandem repeat sequences, genomic duplications and triplet repeat expansions, have facilitated the identification of similar types of mutation in other genetic disorders.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Elsevier
ISSN:	0168-9525
Last Modified:	24 Oct 2022 11:50
URI:	https://orca.cardiff.ac.uk/id/eprint/49481

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