Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 5 of 5 for Congenital myopathy with cores
  1. Multiminicore disease 
    ... condition. Minicore disease Minicore myopathy MmD Multi-core congenital myopathy Multi-core disease Multi-minicore disease Multicore disease Multicore myopathy ...
    https://medlineplus.gov/genetics/condition/multiminicore-disease - Genetics
  2. Centronuclear myopathy 
    ... Genetic Testing Registry: Centronuclear myopathy Genetic Testing Registry: Congenital myopathy with internal nuclei and atypical cores Genetic Testing Registry: Myopathy, centronuclear, 5 Centronuclear myopathy ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  3. Central core disease 
    ... weakness very early in life. As a group, congenital myopathies affect 6 per 100,00 newborns. Mutations in the RYR1 gene cause central core disease. The RYR1 gene provides instructions for making ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
  4. RYR1 gene 
    ... Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007 Aug;130(Pt 8):2024-36. ...
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics
  5. Malignant hyperthermia 
    ... Treves 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