Аутосомно-домінантна центронуклеарна міопатія
ORPHA:169189· ICD-10 G71.2· Autosomal dominant centronuclear myopathy
Визначення(English summary)
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.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant
- Вік початку
- Adolescent, Adult, Childhood, Infancy, Neonatal