Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Preferred term
Sarcoglycanopathies
Type
-
Topical Descriptor
Broader concept
Entry terms
- Sarcoglycanopathy
Scope note
- 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.
History note
- 2011
In other languages
-
Finnish
-
autosomissa peittyvästi periytyvä, Duchennen tai Beckerin dystrofiaa muistuttava lapsuuden lihasdystrofia
-
dysferlinopatia
-
dystrophia musculorum autosomica recessiva infantum, dystrophiae Duchenne sive Becker similis
-
dystrophia musculorum oculopharyngealis
-
kalpainopatia
-
kaveolinopatia
-
laminopatia A/C
-
LGMD
-
LGMD1A-1E
-
LGMD2A-2J
-
limb-girdle-dystrofia
-
muskeldystrofi autosomalt recessiv, hos barn, liknande Duchenne eller Becker
-
muskeldystrofi okulofaryngeal
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myotilinopatia
-
okulofaryngeaalinen lihasdystrofia
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OPMD
-
sarkoglykanopatia
-
sarkoglykanopatiat
-
titinopatiat
-
Swedish
URI
http://www.yso.fi/onto/mesh/D058088
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