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A B FIGURE e-2. Muscle pathology of two patients with TRPV4-linked motor neuropathy. A. Muscle biopsy of a 6-year-old patient with TRPV4-related congenital spinal muscular atrophy and arthrogryposis demonstrating hypertrophied muscle fibers (arrow) (hematoxylin & eosin). B. Muscle biopsy in a 17-year-old patient with TRPV4-related scapuloperoneal spinal muscular atrophy showing muscle fibers atrophy (arrow) (hematoxylin & eosin).

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FIGURE e-2. Muscle pathology of two patients with TRPV4-linked motor neuropathy. A. Muscle biopsy of a 6-year-old patient with TRPV4-related congenital spinal muscular atrophy and arthrogryposis demonstrating hypertrophied muscle fibers (arrow) (hematoxylin & eosin). B. Muscle biopsy in a 17-year-old patient with TRPV4-related scapuloperoneal spinal muscular atrophy showing muscle fibers atrophy (arrow) (hematoxylin & eosin).