Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy

Figures

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  Fig. 1. Pedigrees of the five patients with RYR1-related congenital myopathies.

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  Fig. 2. Radiologic findings of three patients with RYR1 mutations. Whole-spine-bending X-ray of patient ID37 showed severe scoliosis at 7 years old (A). Scoliosis was also observed in a whole-spine X-ray of patient ID45 at 33 years old (B). Muscle CT fat-scan imaging of patient ID185 at 23 years old (C) revealed fatty infiltration in the lumbar paraspinal and gluteus maximus muscles. The posterior compartments of the thigh, rectus femoris, and adductor longus were spared, while the most-affected muscle in the calf was the soleus.

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  Fig. 3. Pathologic findings of three patients with RYR1 mutations. Hematoxylin and eosin staining demonstrated wide variations in fiber size, degenerative fibers, and increased interstitial fibrosis (A: ID37, ×400, B: ID185, ×200, C: ID131, ×400). Two muscle specimens exhibited well-demarcated (D) and ill-defined (E) central cores on nicotinamide adenine dinucleotide-tetrazolium reductase staining (D: ID37, ×400, E: ID185, ×200). Modified Gomori trichrome staining did not demonstrate any rimmed vacuoles, nemaline rods, ragged red fibers, or other granular materials (F: ID37, ×400).

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  Fig. 4. Locations of RYR1 mutations and phenotypes in the reported Korean patients. Schematic representation of the RYR1 protein. SPRY domains are protein-protein interaction motifs which are first identified in tyrosine kinase spore lysis A and mammalian RyRs. ‡ Variants found in a cis arrangement, *, †, §, ¶ Variants that are compound heterozygous mutations, ◆Variants found in our patients with RYR1-related congenital myopathy. CCD: central core disease, MH: malignant hyperthermia.