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Human Diseases (thesaurus)

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Concept information

disease > congenital disease > multicore myopathy
disease > striated muscle disease > myopathy > multicore myopathy

Término preferido

multicore myopathy  

Definición

  • Multi/minicore myopathy is a congenital myopathy usually caused by mutations in either the SEPN1 and RYR1 genes. (Wikipedia)

Concepto genérico

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URI

http://data.loterre.fr/ark:/67375/VH8-D54M42MR-9

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