Catalog

Congenital myopathy with muscle fibre immaturity

No MMS code

Link to WHO Definition

Congenital myopathy with muscle fibre immaturity – http://id.who.int/icd/entity/2119231665

Congenital muscular disorders characterised by impaired skeletal muscle maturation. The immaturity is often characterised by an abnormal presence of myotubes, small fascicles of muscle fibres, thin myofibers, and delayed muscle fibre type differentiation with a peripheral halo lacking mitochondrial oxidative enzyme activity. At an ultrastructural level, the characteristics are a paucity of myofibrils with a peripheral rim devoid of mitochondria and myofibrils in the fibres.