title: The genetic basis of neuromuscular disorders.
abstract: In the last decade, our knowledge of human diseases 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.
authors.affiliation: Department of Biochemistry, University of Oxford, UK. nawrotzki@molbiol.ox.ac.uk
authors.forename: R
authors.initials: R
authors.lastname: Nawrotzki
authors.forename: D J
authors.initials: DJ
authors.lastname: Blake
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
mesh_terms: D002877:Chromosomes, Human; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008954:Models, Biological; D005810:Multigene Family; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D009468:Neuromuscular Diseases / Q000145:classification / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion; D014960:X Chromosome
chemical_list: D009124:Muscle Proteins