Distrofia muscolare dei cingoli
La distrofia muscolare dei cingoli comprende numerosi sottotipi con differenti modelli di ereditarietà (e una conseguente variabilità anche nei criteri diagnostici). I portatori di varianti associate a questa condizione dovrebbero rivolgersi a uno specialista dell'apparato muscolo-scheletrico per ottenere una diagnosi definitiva.
Geni analizzati
Conosciuto anche come
Leyden-Mobius muscular dystrophy; LGMD
Include 45 sottotipi correlati ↓Nascondi i sottotipi ↑
- autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
- autosomal dominant limb-girdle muscular dystrophy type 1E (DES)
- autosomal dominant limb-girdle muscular dystrophy type 1F
- autosomal dominant limb-girdle muscular dystrophy type 1G
- autosomal dominant limb-girdle muscular dystrophy type 1H
- autosomal recessive limb-girdle muscular dystrophy
- autosomal recessive limb-girdle muscular dystrophy type 2A
- autosomal recessive limb-girdle muscular dystrophy type 2B
- autosomal recessive limb-girdle muscular dystrophy type 2C
- autosomal recessive limb-girdle muscular dystrophy type 2D
- autosomal recessive limb-girdle muscular dystrophy type 2E
- autosomal recessive limb-girdle muscular dystrophy type 2F
- autosomal recessive limb-girdle muscular dystrophy type 2G
- autosomal recessive limb-girdle muscular dystrophy type 2H
- autosomal recessive limb-girdle muscular dystrophy type 2I
- autosomal recessive limb-girdle muscular dystrophy type 2J
- autosomal recessive limb-girdle muscular dystrophy type 2K
- autosomal recessive limb-girdle muscular dystrophy type 2L
- autosomal recessive limb-girdle muscular dystrophy type 2M
- autosomal recessive limb-girdle muscular dystrophy type 2N
- autosomal recessive limb-girdle muscular dystrophy type 2O
- autosomal recessive limb-girdle muscular dystrophy type 2P
- autosomal recessive limb-girdle muscular dystrophy type 2Q
- autosomal recessive limb-girdle muscular dystrophy type 2R1
- autosomal recessive limb-girdle muscular dystrophy type 2T
- autosomal recessive limb-girdle muscular dystrophy type 2U
- autosomal recessive limb-girdle muscular dystrophy type 2W
- autosomal recessive limb-girdle muscular dystrophy type 2X
- autosomal recessive limb-girdle muscular dystrophy type 2Y
- autosomal recessive limb-girdle muscular dystrophy type R18
- Bethlem myopathy 1A
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- epidermolysis bullosa simplex 5B, with muscular dystrophy
- limb-girdle muscular dystrophy due to POMK deficiency
- muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
- muscular dystrophy, limb-girdle, autosomal dominant
- muscular dystrophy, limb-girdle, autosomal dominant 4
- muscular dystrophy, limb-girdle, autosomal recessive 23
- muscular dystrophy, limb-girdle, autosomal recessive 26
- muscular dystrophy, limb-girdle, autosomal recessive 27
- muscular dystrophy, limb-girdle, autosomal recessive 28
- muscular dystrophy, limb-girdle, autosomal recessive 29
- myofibrillar myopathy 3
- POMGNT2-related limb-girdle muscular dystrophy R24
- Ullrich congenital muscular dystrophy 1A
