Autosomal dominant centronuclear myopati

Engelsk navn: Autosomal dominant centronuclear myopathy
Engelske synonym: AD-CNM


A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.

Fra Orphanet

ORPHA: 169189
Klassifiseringsnivå: Disorder
ICD-10: G71.2

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