Autosomal recessive centronuclear myopathy
ORPHA:169186· ICD-10 G71.2
Definition
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal