Centronuclear myopathy
Engelsk navn: Centronuclear myopathy
Engelske synonym: CNM
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.
Informasjon
Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 595
Klassifiseringsnivå: Group of disordersICD-10: G71.2