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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Muscular Dystrophies > Glycogen Storage Disease Type VII
Musculoskeletal Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Glycogen Storage Disease Type VII
... > Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Glycogen Storage Disease Type VII
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type VII
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type VII

Terme préférentiel

Glycogen Storage Disease Type VII  

Type

  • mesh:Descriptor

Définition

  • An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.

Concept générique

Concepts associés

Synonyme(s)

  • Deficiency, Muscle Phosphofructokinase
  • Glycogenosis 7
  • Glycogen Storage Disease VII
  • GSD VII
  • Muscle Phosphofructokinase Deficiency
  • Pfkm Deficiency
  • Tarui Disease
  • Tarui's Disease

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-QXKGTTT1-F

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RDF/XML TURTLE JSON-LD Date de création 12/12/1974, dernière modification le 22/06/2015