Investigation of muscle disease
Mastaglia, F.L. and Laing, N.G. (1996) Investigation of muscle disease. Journal of Neurology, Neurosurgery & Psychiatry, 60 (3). pp. 256-274.
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Various pathological processes, some genetically determined and others acquired, may affect the function of the skeletal muscles and may manifest in different ways. Some, such as, the congenital myopathies, produce weakness and hypotonia at birth whereas others do not cause functional abnormalities until childhood, adolescence, or adult life. With the application of modem molecular biological techniques major advances have taken place in the identificaton of the genetic mutations responsible for many of the hereditary muscle diseases and new mutations in nuclear or mitochondrial DNA are being reported on a regular basis. These discoveries have had a major impact on the diagnostic approach to patients with these disorders and have led to the definition of new categories of myopathy such as the dystrophinopathies, encompassing the Duchenne and Becker forms of muscular dystrophy, the sarcoglycanopathies, which include many cases of limb-girdle muscular dystrophy, and the channelopathies comprising the periodic paralyses and myotonic syndromes. This review focuses on the modern approach to the clinical and laboratory investi- gation of patients with muscle diseases with particular emphasis on the application of molecular techniques in diagnosis.
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