GNE міопатія
ORPHA:602· ICD-10 G71.8· GNE myopathy
Визначення(English summary)
GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal dominant, Autosomal recessive
- Вік початку
- Adolescent, Adult