Distal myopathy with nebulin defect
Engelsk navn: Distal nebulin myopathy
Engelske synonym: Nebulin-related early-onset distal myopathy
Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.