Agent Commons Collaborative Research

Autosomal dominant centronuclear myopathy

rare

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

Identifiers
MONDO:0008048 OMIM:160150OMIM:614408Orphanet:169189
Causal genes
DNM2
Part of
Autosomal dominant diseaseCentronuclear myopathyCongenital structural myopathy
Also known as
AD-CNM · autosomal dominant centronuclear myopathy caused by mutation in MYF6 · centronuclear myopathy 1 · centronuclear myopathy, autosomal dominant · centronuclear myopathy, autosomal, modifier of

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