Autosomal dominant centronuclear myopathy

Definition

An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

Also known as AD-CNM, autosomal dominant centronuclear myopathy, autosomal dominant centronuclear myopathy caused by mutation in MYF6, centronuclear myopathy 1, centronuclear myopathy, autosomal dominant, centronuclear myopathy, autosomal, modifier of, CNM1, myopathy, centronuclear, 1, myopathy, centronuclear, 3, myopathy, centronuclear, autosomal dominant, myopathy, centronuclear, type 1, myopathy, centronuclear, type 3, myotubular myopathy, autosomal dominant — per MONDO

Also identified as

• DOID 0111217 per MONDO
• DOID 0111223 per MONDO
• NCIT C126689 per MONDO
• OMIM 160150 per MONDO
• OMIM 614408 per MONDO
• Orphanet 169189 per MONDO
• SCTID 716696006 per MONDO
• UMLS C4551952 per MONDO

Affected Organs