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Family pedigrees. The black filled symbol represents the affected proband. Sequence analysis of the proband RYR1 gene identified a missense mutation (c.7354C>T) in exon 46, resulting in the substitution of an Arg in position 2452 with a Trp (p.R2452W), and a duplication c.12853_12864dupACGGCGGCCACG involving 4 amino acid residues (Thr, Ala, Ala, Thr, p.Thr4285_Thr4288dup) in exon 91. The genotype of family members tested is reported below each symbol.
