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. 2013 Jun 27;24(7):702–713. doi: 10.1089/hum.2013.052

FIG. 1.

FIG. 1.

Case description. (a) Pedigree of the family. Black symbols denote the symptomatic individuals, gray symbols correspond to pauci-symptomatic individuals, open symbols indicate asymptomatic individuals, and question marks refer to individuals with an unknown clinical status. The arrow indicates the proband. Diamond symbol represents the fetus. Signs+and − refer to the presence and absence of a mutation in the RYR1 gene, respectively. (b) Western blot analysis of the amount of RyR1 in a muscle biopsy from the patient (P, ind III.1) compared with an age-matched control (C). Amount of RyR1 was normalized to the amount of γ-sarcoglycan. (c) Representation of the consequences of the c.14646+2563C>T paternal intronic mutation on the splicing of the RYR1 pre-mRNA. The additional pseudo-exon inserted in the mRNA after aberrant splicing is in gray. (d) Schematic representation of the RyR1 protein with the approximate localizations of the maternal c.11778G>A and paternal c.14646+2563C>T mutations. The six transmembrane domains of RyR1 are represented in gray, in the sarcoplasmic reticulum membrane. RyR1, type 1 ryanodine receptor.