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
Término preferido
Sarcoglycanopathies
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Tipo
-
mesh:Descriptor
Definición
- 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).
Concepto genérico
Etiquetas alternativas
- Sarcoglycanopathy
En otras lenguas
-
francés
URI
http://data.loterre.fr/ark:/67375/JVR-XHXVQSKN-Z
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