Autosomal recessive centronuclear myopathy

Også kjent som: AR centronuclear myopathy
Engelsk navn: Autosomal recessive centronuclear myopathy
Engelske synonym: AR-CNM


A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement.

Fra Orphanet

ORPHA: 169186
Klassifiseringsnivå: Disorder
ICD-10: G71.2

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