X-linked myopathy with excessive autophagy
ORPHA:25980· ICD-10 G71.8
Definition
A rare X-linked myopathy characterized by childhood or adult-onset of slowly progressive muscle weakness and unique histopathological findings (autophagic vacuoles with sarcolemmal features).
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal