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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: Genotype-phenotype correlations in recessive RYR1-related myopathies

Figure 3

Assessment of associations with mutation type. Each mutation is represented by a shape which corresponds to the mutation type and color which corresponds to the diagnosis. Superscripts correspond to the number of times the mutation has been reported in separate families. Several regions of RYR1 have been highlighted, including the mutation hotspots (Regions I-III) and domains. Abbreviations: multimincore disease (MmD), central core disease (CCD), centronuclear myopathy (CNM), congenital fiber type disproportion (CFTD), RYR1-related myopathy (RRM), King Denborough syndrome (KDS), malignant hyperthermia (MH), autosomal recessive muscular dystrophy (AR MD).

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