Molecular Genetic Studies
The specific molecular genetic defect is now known for a large number of hereditary myopathies, and mutations can be identified by peripheral blood DNA analysis. Molecular genetic studies that are commercially available are included in Table 21 . Molecular genetic testing frequently eliminates the need for muscle biopsy or additional laboratory testing. This technology is also extremely helpful for determining carrier status, identifying presymptomatic or at-risk individuals, and for performing prenatal testing. Occasionally, as in myo-tonic dystrophy, it may suggest phenotypic expression and severity of disease. Recently, molecular genetic studies have been useful for identifying patients for gene therapy trials.
Semin Neurol. 2008;28(2):228-240. © 2008 Thieme Medical Publishers
Cite this: Clinical Approach to Muscle Diseases - Medscape - Apr 01, 2008.