Distal myopathy with nebulin defect
Engelsk navn: Distal nebulin myopathy
Engelske synonym: Nebulin-related early-onset distal myopathy
Definisjon
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.
Fra Orphanet
ORPHA: 399103
Klassifiseringsnivå: Disorder
ICD-10: G71.0
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
