Fig. 1.

Pedigree and haplotyping analysis of the present family. Arrows denote probands who experienced malignant hyperthermia episodes or individuals showing overt clinical myopathies. Black shapes indicate individuals with histological multiminicore lesions. Empty shapes and a question mark denote individuals in whom muscle biopsies and genetic tests were not performed, respectively. Genotypes: +/-, heterozygous carrier of R2435H and A4295V mutations; -/-, no mutation. The results of marker typing and identification of the mutation are shown in the following order: D19S191-D19S220-RYR1 mutations-D19S422-D19S190-D19S223.