Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study

Figures

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  Fig 1. Changes in manual muscle test sum scores with age: A spaghetti plot. Individual changes in patients with Duchenne muscular dystrophy (DMD), intermediate phenotype muscular dystrophy (IMD), and Becker muscular dystrophy (BMD). Blue, red, and green colors indicate patients with DMD, IMD, and BMD, respectively. *MMT, manual muscle test: the MMT for strength was converted to an 11-point scale (0, 1, 2, 3-, 3, 3+, 4-, 4, 4+, 5-, and 5). The observed MMT scores ranged from 0 to 10 for each movement assessed. The total MMT score represents the sum of 10 strength values, including those for shoulder abduction, elbow extension, elbow flexion, wrist extension, wrist flexion, hip flexion, knee extension, knee flexion, ankle dorsiflexion, and ankle plantarflexion.

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  Fig 2. Changes in mean serum creatine kinase (CK) levels with age. Blue, red, and green colors indicate patients with Duchenne muscular dystrophy (DMD), intermediate phenotype muscular dystrophy (IMD), and Becker muscular dystrophy, respectively. The average annual decrease in serum creatine kinase level was significantly steeper in patients with DMD than in patients with IMD (p = 0.003) and BMD (p<0.001). (A) Change in mean serum CK level with age for ages 0–12 and (B) change in mean serum CK level with age for ages 12 and above.

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  Fig 3. Distribution of large rearrangements in 178 probands with dystrophinopathy. Red (A) and blue (B) colors indicate exonic deletions and exonic duplications, respectively.

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  Fig 4. Small sequence variants in DMD in 40 probands with dystrophinopathy. Red, blue, pink, light blue, and green colors indicate splicing, frameshift, non-sense, deep intron, and missense variants, respectively. Bold text indicates novel variants. Dots indicate the frequency of each variant.