Nonaka myopathy (GNE myopathy)
Engelsk navn: GNE myopathy
Engelske synonym: DMRV,Distal myopathy with rimmed vacuoles,Distal myopathy, Nonaka type,HIBM2,Hereditary inclusion body myopathy type 2,IBM2,Inclusion body myopathy type 2,Nonaka myopathy,Quadriceps-sparing myopathy
Definisjon
GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.
Fra Orphanet
ORPHA: 602
Klassifiseringsnivå: Disorder
ICD-10: G71.8
Mer informasjon
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