Centronuclear myopathy

rare

Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.

Identifiers: MONDO:0018947 Orphanet:595
Part of: Congenital myopathy Hereditary skeletal muscle disorder
Also known as: CNM · myopathy, centronuclear · myopathy, myotubular

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
X-linked myotubular myopathy	MONDO:0010683	2	MTM1
Autosomal recessive centronuclear myopathy	MONDO:0015705	2
Autosomal dominant centronuclear myopathy	MONDO:0008048		DNM2
Congenital myopathy with internal nuclei and atypical cores	MONDO:0013890		CCDC78
Myopathy, centronuclear, 6, with fiber-type disproportion	MONDO:0054695		MAP3K20

Projects

Including projects on subtypes.

No projects yet.