Muskeldystrofi av typen Limb-girdle
Muskeldystrofi av typen Limb-girdle definieras som en samling av många undertyper med olika nedärvningsmönster (där möjligheten att ställa diagnos också varierar). Du som är bärare av varianter kopplade till sjukdomen bör vända dig till en specialist inom muskel- och skelettsjukdomar för en säker diagnos.
Analyserade gener
Även känd som
Leyden-Mobius muscular dystrophy; LGMD
Inkluderar 45 relaterade undertyper ↓Dölj undertyper ↑
- 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
