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  • Molecular assay reagents intended to identify mutations in the protein O-mannosyltransferase 1 (POMT1) gene, located at chromosome 9q34.1, which encodes for a protein involved in o-mannosylation, an important protein modification, that may be required for normal structure and function of alpha-dystroglycan in muscle and the brain. This genetic mutation has been identified in patients with Walker-Warburg syndrome (WWS) muscular dystrophy, and muscular dystrophy limb-girdle, type 2K.
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