Figure 1
From: Genotype-phenotype correlations in recessive RYR1-related myopathies
Breakdown of hispathologic diagnosis. Percentage breakdown of cases in the combined cohort by their predominant histopathologic pattern on muscle biopsy. Exceptions included are King Denborough Syndrome (KDS), which is a clinical diagnosis based primarily on specific dysmorphic features, and congenital myopathy plus malignant hyperthermia (MH), where individuals had non-specific biopsy features plus a history of MH. Abbreviations: multimincore disease (MmD), central core disease (CCD), centronuclear myopathy (CNM), congenital fiber type disproportion (CFTD), RYR1-related myopathy (RRM), autosomal recessive muscular dystrophy (AR MD).