RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families

Figure 2

Sequence analysis of the variant RYR1 c.4003C>T (p.R1335C) ((a) and (b)) in patient 460 and the variant RYR1 c.14771_14772insTAGACAGGGTGTTGCTCTGTTGCCCTTCTT (p.F4924_V4925insRQGVALLPFF) ((c) and (d)) in patient 425 from gDNA ((a) and (c)) and cDNA ((b) and (d)) isolated from the patient’s lymphocytes. The arrows in the nucleotide sequences indicate the position of the mutation; the sequence of the insertion in patient 425 is underlined.