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SALSA MLPA KIT P176 CAPN3
Limb girdle muscular dystrophies (LGMD) are a group of phenotypically and genotypically heterogeneous diseases, characterized by progressive weakness and atrophy of the muscles of the pelvic and shoulder girdle. Mutations of the CAPN3 gene have been associated with limb-girdle muscular dystrophy type 2A (LGMD2A). These mutations result in a cascade of events leading eventually to muscular dystrophy. The precise underlying mechanisms have yet to be elucidated. However, a defect of CAPN3 proteolytic activity is largely recognized as the main pathogenetic cause of LGMD2A. Patients with LGMD2A have symmetrical and selective involvement of proximal limb-girdle muscles. The disease shows wide intrafamilial and interfamilial clinical variability. The age at onset ranges from 2 to 40 years, but the disease usually first appears in the second or third decade of life, with the development of proximal weakness in the lower limbs. Calpain 3 (CAPN3) belongs to the superfamily of calcium-activated neutral proteases, which are nonlysosomal intracellular cysteine proteases. CAPNs respond to Ca2+ signals by cleaving specific proteins, frequently components of signaling cascades, thereby irreversibly modifying their function(s). The CAPN3 gene is located on chromosome 15q15.1 and comprises 24 exons, spanning 52.8 kb of genomic DNA. The gene is predominantly expressed in skeletal muscle where it is present in the cytosol as well as in the nucleus. This P176 CAPN3 probemix contains 19 probes for exons 1-11, 13, 16-18, 20, 22 and 24 of the CAPN3 gene as well as 12 probes targeted to human genes as controls.
Full mix description (pdf)
Last change in probe mix content: Lot 0608 (June 2008) Current Lot Number.: Lot 0608
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References
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