New Test in CIC Catalog
Test Code: 4308
Sample: Whole blood EDTA (10 ml) Conservation: Refrigerated Method: Sequencing Method Set Up Days: Daily Plazo de Entrega: 32 days Information: MYH7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. The identification of FHL1, MHC7, and Des mutations in patients with scapuloperoneal myopathy suggests that myofibrillary disarray may be a common feature of Scapuloperoneal syndrome. Links:
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