N

Fig. 1 (a) Diagnostic algorithm for NCL1-3. Following clinical assessment, EM studies would provide ultrastructural information guiding the assays of either PPT1 or TPP1, and DNA deletion at the CLN3 gene. If enzyme deficiency is demonstrated, mutation analyses will be followed at the CLN1 or CLN2 gene. (b) Diagnostic algorithm for NCL5-10. Following molecular studies on CLN1-3, the patient should be subjected to further analyses in genetic loci of CLN5-10. NCL9 is not included because of dominant inheritance, which can be recognized clinically. (View this art in color at www.dekker.com.)

Fig. 1 (a) Diagnostic algorithm for NCL1-3. Following clinical assessment, EM studies would provide ultrastructural information guiding the assays of either PPT1 or TPP1, and DNA deletion at the CLN3 gene. If enzyme deficiency is demonstrated, mutation analyses will be followed at the CLN1 or CLN2 gene. (b) Diagnostic algorithm for NCL5-10. Following molecular studies on CLN1-3, the patient should be subjected to further analyses in genetic loci of CLN5-10. NCL9 is not included because of dominant inheritance, which can be recognized clinically. (View this art in color at www.dekker.com.)

sequencing), including six fragments for CLN four for CLN2, six for CLN3, and five for CLN6, is used as a golden standard procedure to screen rare or familial mutations for NCL1-3 (Table 3). The PCR sequencing is also applied in NCL6.[24] Although detailed information regarding primer sequences and PCR conditions is provided in this entry, the laboratory that performs the procedures should be aware that each individual protocol ought to be optimized, especially the annealing temperatures and the final concentration of Mg2+ in the PCR reactions. Validating the molecular protocols before genetic testing is offered because a clinical test is highly recommended.

Table 2 Molecular testing of common mutations for NCLs

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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