8C72.01
Centronuclear myopathy
Miopatia centronuclear
CategoryDefinition
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. It encompasses the X-linked form, the autosomal recessive form and the autosomal dominant form with a highly variable clinical presentation.
Index Terms
Centronuclear myopathyAutosomal recessive centronuclear myopathyCentronuclear myopathy with type I fibre hypotrophyAutosomal dominant centronuclear myopathySevere infantile myotubular myopathyMyotubular myopathysevere x-linked myotubular myopathyx-linked centronuclear myopathymyotubular centronuclear myopathy