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Multi/minicore myopathy is a congenital myopathy usually caused by mutations in either the SEPN1 and RYR1 genes. It is characterised the presence of multifocal, well-circumscribed areas with reduction of oxidative staining and low myofibrillar ATPase on muscle biopsy. It is also known as Minicore myopathy, Multicore myopathy, Multiminicore myopathy, Minicore myopathy with external ophthalmoplegia, Multicore myopathy with external ophthalmoplegia and Multiminicore disease with external ophthalmoplegia.

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  • Als Multicore-Myopathie oder Multiminicore-Myopathie wird eine seltene Muskelerkrankung aus der Gruppe der bezeichnet, die 1971 erstmals beschrieben wurde. (de)
  • La miopatía multicore, también conocida como miopatía minicore, miopatía por múltiples cuerpos o enfermedad multi-minicore es una rara enfermedad congénita caracterizada por la debilidad muscular y neuroesqueletica, normalmente se suceden infecciones recurrentes en el tórax y produce escoliosis, a diferencia de muchas miopatias, la inteligencia es normal, y la evolución de la miopatía es benigna. (es)
  • Multi/minicore myopathy is a congenital myopathy usually caused by mutations in either the SEPN1 and RYR1 genes. It is characterised the presence of multifocal, well-circumscribed areas with reduction of oxidative staining and low myofibrillar ATPase on muscle biopsy. It is also known as Minicore myopathy, Multicore myopathy, Multiminicore myopathy, Minicore myopathy with external ophthalmoplegia, Multicore myopathy with external ophthalmoplegia and Multiminicore disease with external ophthalmoplegia. (en)
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dbp:specialty
  • cardiology (en)
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rdfs:comment
  • Als Multicore-Myopathie oder Multiminicore-Myopathie wird eine seltene Muskelerkrankung aus der Gruppe der bezeichnet, die 1971 erstmals beschrieben wurde. (de)
  • La miopatía multicore, también conocida como miopatía minicore, miopatía por múltiples cuerpos o enfermedad multi-minicore es una rara enfermedad congénita caracterizada por la debilidad muscular y neuroesqueletica, normalmente se suceden infecciones recurrentes en el tórax y produce escoliosis, a diferencia de muchas miopatias, la inteligencia es normal, y la evolución de la miopatía es benigna. (es)
  • Multi/minicore myopathy is a congenital myopathy usually caused by mutations in either the SEPN1 and RYR1 genes. It is characterised the presence of multifocal, well-circumscribed areas with reduction of oxidative staining and low myofibrillar ATPase on muscle biopsy. It is also known as Minicore myopathy, Multicore myopathy, Multiminicore myopathy, Minicore myopathy with external ophthalmoplegia, Multicore myopathy with external ophthalmoplegia and Multiminicore disease with external ophthalmoplegia. (en)
rdfs:label
  • Multicore-Myopathie (de)
  • Miopatía multicore (es)
  • Multi/minicore myopathy (en)
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