Sarcoglycanopathies [sarkoglykanopatie]
- Terms
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alfa-sarkoglykanopatie
LGMD2D
pletencová svalová dystrofie způsobená deficitem alfa-sarkoglykanu
svalová dystrofie končetinového pletence typu 2D
svalová dystrofie pletencová, typ 2D
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Adhalinopathies
Adhalinopathy, Primary
Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathy
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2
LGMD2D
Limb-Girdle Muscular Dystrophy, Type 2D
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency
Muscular Dystrophy, Limb-Girdle, Type 2D
Sarcoglycanopathy
Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.
- DUI
- D058088 MeSH Browser
- CUI
- M0540771
- History note
- 2011
- Public note
- 2011
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