Clinical Approach to Muscle Diseases

Carlayne E. Jackson, M.D.


Semin Neurol. 2008;28(2):228-240. 

In This Article

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.


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