Summary of dysferlin myopathy patients: Correlation with protein expression in PBM, skeletal muscle and mutations.
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M- male; F- female; MM: Miyoshi myopathy; LGMD2B: limb girdle muscular dystrophy; DACM: Distal anterior compartment myopathy. The mutations of patients P_1, P_2, P_4, P_5, P_6, P_10, P_13, P_14 [12], [17], P_15 [8] and P_17 [26] have been previously described. The intronic mutation, c. 4410+13T>G, of P_7 has been previously described in the Leyden Muscular Dystrophy web page (www.dmd.nl) (Accession number used NM_003494.2).
创建时间：
2015-12-02
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