Figure 2

Identification of RYR1 in frame deletions. A. In the proband (F1) from Family MPS002 there is a homozygous deletion of 27 nucleotides (c.2097-2123del). The deleted/altered amino acids exhibited total conservation in zebrafish and partial conservation with 6/9 amino acids in C. elegans conserved. B: In the proband (F1) from Family MPS003 there is a homozygous deletion of 3 nucleotides (c.7043delGAG). The deleted amino acids (Glu/E) was conserved in the zebrafish with some degree of functional conservation in C.elegans (D/E).