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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

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

Figure 2

Assessment of associations with mutation type. (A) Mutation types among histopalogic diagnosis. Abbreviations: multimincore disease (MmD), central core disease (CCD), centronuclear myopathy (CNM), RYR1-related myopathy (RRM), congenital fiber type disproportion (CFTD). (B) Mutation types among severity groups. Clinical severity scores of 0–4 were considered mild, while scores of 5–8 were considered severe based on the criteria listed in Additional file 3: Table S3.

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