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Concept information

Terme préférentiel

Spinal Muscular Atrophies of Childhood  

Type

  • mesh:Descriptor

Définition

  • A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-R7R4RN04-Z

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RDF/XML TURTLE JSON-LD Date de création 28/04/1987, dernière modification le 08/02/2016