Article
Diagnosis of dystrophinopathies: review for the clinician.
Pediatric neurology - 1 Jan 2000
Miller G, Wessel H B
Abstract excerpt
The dystrophinopathies are muscle disorders due to an abnormality of an Xp21-linked gene which produces the dystrophin protein. The most common of these disorders are the Duchenne and Becker muscular dystrophies. Modern molecular genetic techniques enable reliable diagnosis and prognosis in many patients, but there are occasional pitfalls. Furthermore, the clinical spectrum of the dystrophinopathies are now such...
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