X-linked centronuclear myopathy
ORPHA:596· ICD-10 G71.2
Definition
A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.
- Prevalence
- Unknown
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal