Centronuclear myopathy
Engelsk navn: Centronuclear myopathy
Engelske synonym: CNM
Definisjon
A rare group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The clinical picture and other histologic features varies according to gene involved and mode of inheritance.
Fra Orphanet
ORPHA: 595
Klassifiseringsnivå: Group of disorders
ICD-10: