Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age

Figures

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  FIGURE 1. Myopathological features. HE: Hematoxylin and Eosin; NADH: Nicotinamide adenine dinucleotide tetrazolium reductase; TG: Gömöri Trichrome. ATPases pH 4.6. Centronuclear myopathy and core myopathy represent together more than half of the cohort, followed by core and rods myopathy, nemaline myopathy, multi‐minicore myopathy, congenital fiber type disproportion, and hyalin body myopathy. (Figure legend: MmD = Multi‐minicore Disease, CFTD = Congenital Fiber Type Disproportion, NM = Nemaline Myopathy, CCD = Central Core Disease, CNM = Centronuclear Myopathy, C&R = Cores and Rods myopathy), HBM = Hyalin Body Myopathy.

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  FIGURE 2. Genetic analysis. Single gene frequency in our cohort.

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  FIGURE 3. Age at onset according to genotype. Clinical onset distribution according to genotype; y: Years. The progressively darker color tone indicates a higher gene frequency for each group.

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  FIGURE 4. Selective patterns of muscle weakness distribution according to genotype. (A) Axial involvement (blue); (B) Proximal involvement (green); (C) Distal involvement (red) with associated mutated genes.

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  FIGURE 5. Facial muscle involvement. Facial muscle weakness according to genotype.

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  FIGURE 6. Respiratory involvement according to genotype and age. Respiratory function, ranging from tracheostomy to FVC > 60%, is graphically displayed by the dark pink area compared to the lungs’ total volume. N = number of patients.

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  FIGURE 7. Motor performance status. Motor performance at last follow‐up evaluation according to genotype. (A) fully ambulatory patients; (B) minimal walking aids; (C) unilateral or bilateral supports; (D) wheelchair bound. The progressive darker color tone indicates a higher gene frequency for each group.

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  FIGURE 8. Pathogenic variants localizations and severe phenotype. Schematic representation of the RYR1 and DNM2 genes with the localization of variants leading to a severe phenotype. RYR1 monoallelic variants are displayed in red and biallelic in green. Wheelchair symbol: Loss of ambulation; lungs symbol: Respiratory involvement FVC < 60%; thermometer symbol: Variant associated with malignant hyperthermia.