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Results 1 - 10 of 27 for Central core disease
  1. Central core disease 
    Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness ... members of the same family.Most people with central core disease experience persistent, mild muscle weakness that does not ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
  2. RYR1 gene 
    ... RYR1 gene have been identified in people with central core disease. This condition is characterized by muscle weakness, primarily ... Most of the RYR1 gene mutations involved in central core disease affect single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics
  3. Malignant hyperthermia 
    ... serious medical problems, certain inherited muscle diseases (including central core disease, multiminicore disease, and STAC3 disorder) are associated with ...
    https://medlineplus.gov/genetics/condition/malignant-hyperthermia - Genetics
  4. SMC1A gene 
    ... Citation on PubMed or Free article on PubMed Central Mannini L, Liu J, Krantz ID, Musio A. Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease. Hum Mutat. 2010 Jan;31(1):5-10. ...
    https://medlineplus.gov/genetics/gene/smc1a - Genetics
  5. Multiminicore disease 
    ... muscular dystrophy, cause the classical phenotype of multiminicore disease: ... use of models to understand core myopathies. Dis Model Mech. 2019 Dec 19;12( ...
    https://medlineplus.gov/genetics/condition/multiminicore-disease - Genetics
  6. Core binding factor acute myeloid leukemia 
    ... Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...ore-binding-factor-acute-myeloid-leukemia - Genetics
  7. Chromosome 21 
    ... Citation on PubMed or Free article on PubMed Central Gilbert F. Disease genes and chromosomes: disease maps of the human ...
    https://medlineplus.gov/genetics/chromosome/21 - Genetics
  8. Familial thoracic aortic aneurysm and dissection 
    ... Citation on PubMed or Free article on PubMed Central Milewicz DM, Cecchi AC. Heritable Thoracic Aortic Disease Overview. 2003 Feb 13 [updated 2023 May 4]. ...
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection - Genetics
  9. ACTA2 gene 
    ... Citation on PubMed or Free article on PubMed Central Milewicz DM, Cecchi AC. Heritable Thoracic Aortic Disease Overview. 2003 Feb 13 [updated 2023 May 4]. ...
    https://medlineplus.gov/genetics/gene/acta2 - Genetics
  10. SLC52A3 gene 
    ... Citation on PubMed or Free article on PubMed Central Yonezawa A, Inui K. Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52. Mol Aspects Med. 2013 Apr- ...
    https://medlineplus.gov/genetics/gene/slc52a3 - Genetics
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