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8C72.01 Centronuclear myopathy

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

synonyms

• Centronuclear myopathy
• Autosomal recessive centronuclear myopathy
• Centronuclear myopathy with type I fibre hypotrophy
• Autosomal dominant centronuclear myopathy
• Severe infantile myotubular myopathy
• Myotubular myopathy
• severe x-linked myotubular myopathy
• x-linked centronuclear myopathy
• myotubular centronuclear myopathy

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