Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
...
Muscular Diseases
Muscular Disorders, Atrophic
Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Preferred term
Sarcoglycanopathies
Type
-
mesh:Descriptor
Definition
- 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. Limb girdle muscular dystrophies due to mutations in the gene for the ALPHA-SARCOGLYCAN or deficiencies in alpha-sarcoglycan due to a mutation in another gene (secondary alpha-sarcoglycanopathy).
Broader concept
Entry terms
- Sarcoglycanopathy
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- congenital (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
In other languages
-
French
URI
http://data.loterre.fr/ark:/67375/JVR-XHXVQSKN-Z
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