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Results 1 - 5 of 5 for Multiminicore myopathy
  1. Multiminicore disease 
    ... disease Multi-minicore disease Multicore disease Multicore myopathy Multiminicore myopathy Genetic Testing Registry: Congenital multicore myopathy with external ...
    https://medlineplus.gov/genetics/condition/multiminicore-disease - Genetics
  2. Rigid spine muscular dystrophy 
    ... myopathy, which also includes the classic form of multiminicore disease, desmin-related myopathy with Mallory body-like inclusions, and a small ...
    https://medlineplus.gov/.../condition/rigid-spine-muscular-dystrophy - Genetics
  3. SELENON gene 
    ... spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet. 2002 Oct;71(4): ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  4. RYR1 gene 
    ... normally, leading to the muscle weakness characteristic of multiminicore disease. More About This Health Condition MedlinePlus Genetics provides information about Centronuclear myopathy More About This Health Condition CCD MHS MHS1 ...
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics
  5. Malignant hyperthermia 
    ... certain inherited muscle diseases (including central core disease, multiminicore disease, and STAC3 disorder) are associated with malignant ... S, Muntoni F. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. ...
    https://medlineplus.gov/genetics/condition/malignant-hyperthermia - Genetics