TRPV4-Linked Motor Neuropathy: Muscle Pathology Comparison

DESCRIPTION

Comparative muscle biopsies of a 6-year-old with spinal muscular atrophy and a 17-year-old with scapuloperoneal muscular atrophy due to TRPV4 mutation, showcasing hypertrophied and atrophied muscle fibers respectively.

TRPV4-Linked Motor Neuropathy: Muscle Pathology Comparison

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Presentation Transcript

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). A B