Mutation Detection

Blood samples are taken for straightforward DNA sequencing to assess the exact PTC gene mutation carried, but novel approaches including a protein truncation assay are being increasingly used to improve the yield of mutation detection. Standard sequencing detects minor changes in DNA [e.g., single-strand conformation polymorphism (SSCP) analysis, heteroduplex analysis, and denaturing gradient gel electrophoresis (DGGE) analysis], including those that are not pathogenic (polymorphisms) or are of questionable pathogenicity (missense mutations). The protein truncation test[18] specifically uncovers certain disease-causing mutations, namely, those causing premature translation termination. Initially developed for use with Duchenne muscular dystrophy, PTT is now used for screening many different disease genes and is proving useful in BCNS diagnosis.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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