Svensk definition
En blandad grupp sjukdomar med tidigt uppträdande hypotoni, försenad utveckling av motoriska färdigheter och oföränderlig svaghet. Var och en av sjukdomarna är förknippad med någon specifik histologisk muskelfiberdefekt.
Myopathies, Structural, Congenital
Medfödda strukturella myopatier
Engelsk definition
A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
Svenska synonymer
Myotubulär myopati — Centronukleär myopati — Autosomal dominant centronukleär myopati
Engelska synonymer
Structural Myopathies, Congenital — Congenital Non-Progressive Myopathies — Congenital Non Progressive Myopathies — Congenital Non-Progressive Myopathy — Myopathies, Congenital Non-Progressive — Myopathy, Congenital Non-Progressive — Non-Progressive Myopathy, Congenital — Myotubular Myopathy — Myopathy, Myotubular — Myopathies, Myotubular — Myotubular Myopathies — Congenital Structural Myopathies — Congenital Structural Myopathy — Myopathies, Congenital Structural — Myopathy, Congenital Structural — Structural Myopathy, Congenital — Non-Progressive Myopathies, Congenital — Non Progressive Myopathies, Congenital — Autosomal Recessive Centronuclear Myopathy — Tubular Aggregate Myopathy — Aggregate Myopathies, Tubular — Aggregate Myopathy, Tubular — Myopathies, Tubular Aggregate — Tubular Aggregate Myopathies — Myopathy, Tubular Aggregate — Myopathy, Centronuclear, 1 — Autosomal Dominant Myotubular Myopathy — Myotubular Myopathy, X-Linked — Myopathies, X-Linked Myotubular — Myopathy, X-Linked Myotubular — Myotubular Myopathies, X-Linked — Myotubular Myopathy, X Linked — X-Linked Myotubular Myopathies — XLMTM — Myotubular Myopathy 1 — X-Linked Centronuclear Myopathy — Centronuclear Myopathies, X-Linked — Centronuclear Myopathy, X-Linked — Myopathies, X-Linked Centronuclear — Myopathy, X-Linked Centronuclear — X Linked Centronuclear Myopathy — X-Linked Centronuclear Myopathies — X-Linked Myotubular Myopathy — X Linked Myotubular Myopathy — Congenital Fiber Type Disproportion — Congenital Myopathy with Fiber Type Disproportion — Myopathy, Congenital, With Fiber-Type Disproportion — Congenital Fiber-Type Disproportion — Congenital Fiber-Type Disproportions — Disproportion, Congenital Fiber-Type — Disproportions, Congenital Fiber-Type — Fiber-Type Disproportion, Congenital — Fiber-Type Disproportions, Congenital — CFTDM — Fiber-Type Disproportion Myopathy, Congenital — Fiber Type Disproportion Myopathy, Congenital — Centronuclear Myopathy — Centronuclear Myopathies — Myopathies, Centronuclear — Myopathy, Centronuclear — Myopathy, Centronuclear, Autosomal Dominant — Myotubular Myopathy, Autosomal Dominant