Помірно виражена мязова дистрофія, повязана з колагеном VI
ORPHA:646113· ICD-10 G71.2· Intermediate collagen VI-related muscular dystrophy
Визначення(English summary)
A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years.
- Успадкування
- Autosomal dominant, Autosomal recessive