Хвороба Данона
ORPHA:34587· ICD-10 E74.0· Danon disease
Визначення(English summary)
A rare X-linked genetic condition due to deficiency of the lysosomal-associated membrane protein 2 (LAMP2) characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficits (in males).
- Поширеність
- <1 / 1 000 000
- Успадкування
- X-linked dominant
- Вік початку
- Childhood