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Concept information

Cardiovascular Diseases > Heart Diseases > Cardiomyopathies > Sarcoglycanopathies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Muscular Dystrophies > Muscular Dystrophies, Limb-Girdle > Sarcoglycanopathies
... > Musculoskeletal Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Muscular Dystrophies, Limb-Girdle > Sarcoglycanopathies
... > Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Muscular Dystrophies, Limb-Girdle > Sarcoglycanopathies
Respiratory Tract Diseases > Respiration Disorders > Sarcoglycanopathies

Terme préférentiel

Sarcoglycanopathies  

Type

  • mesh:Descriptor

Définition

  • 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).

Concept générique

Synonyme(s)

  • Sarcoglycanopathy

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-XHXVQSKN-Z

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RDF/XML TURTLE JSON-LD Date de création 25/06/2010, dernière modification le 08/07/2013