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Results 1 - 10 of 11 for ryr1
  1. RYR1 gene 
    The RYR1 gene provides instructions for making a protein called ryanodine receptor 1 (also called the RYR1 channel). This protein is part of a group of related ...
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics
  2. Centronuclear myopathy 
    ... that are associated with centronuclear myopathy. BIN1 DNM2 RYR1 TTN Additional Information from NCBI Gene: CCDC78 SPEG ... Manzur AY, Sewry CA, Muntoni F, Jungbluth H. RYR1 mutations are a common cause of congenital myopathies ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  3. RYR2 gene 
    ... ARVC2 ARVD2 cardiac muscle ryanodine receptor cardiac muscle ryanodine receptor-calcium release channel CPVT1 ryanodine receptor 2 (cardiac) VTSIP Tests of ...
    https://medlineplus.gov/genetics/gene/ryr2 - Genetics
  4. Malignant hyperthermia 
    ... them to medical attention. Certain variations of the RYR1 and CACNA1S genes increase the risk of developing malignant hyperthermia. Mutations in the RYR1 gene account for most cases of malignant hyperthermia ...
    https://medlineplus.gov/genetics/condition/malignant-hyperthermia - Genetics
  5. STAC3 gene 
    ... flow, dihydropyridine receptor (DHPR) and ryanodine receptor 1 (RYR1). However, STAC3's role in this formation is unknown. RYR1 forms a channel (the RYR1 channel) through which ...
    https://medlineplus.gov/genetics/gene/stac3 - Genetics
  6. STAC3 disorder 
    ... flow, dihydropyridine receptor (DHPR) and ryanodine receptor 1 (RYR1). However, STAC3's role in this formation is unclear. RYR1 forms a channel (the RYR1 channel) through which ...
    https://medlineplus.gov/genetics/condition/stac3-disorder - Genetics
  7. Central core disease 
    ... 6 per 100,00 newborns. Mutations in the RYR1 gene cause central core disease. The RYR1 gene provides instructions for making a protein called ... allowing the body to move.Mutations in the RYR1 gene change the structure of ryanodine receptor 1 ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
  8. Multiminicore disease 
    ... also known as mutations) in the SELENON and RYR1 genes have been found to cause about half ... classic forms, are caused by variants in the RYR1 gene. The RYR1 gene provides instructions for making ...
    https://medlineplus.gov/genetics/condition/multiminicore-disease - Genetics
  9. CACNA1S gene 
    ... type of calcium channel called ryanodine receptor 1 (RYR1) channels (produced from the RYR1 gene). RYR1 channels are located in the membrane of a ... transmitted by CACNA1S-containing channels turn on (activate) RYR1 channels, which then release calcium ions inside the ...
    https://medlineplus.gov/genetics/gene/cacna1s - Genetics
  10. Congenital fiber-type disproportion 
    ... congenital fiber-type disproportion. Mutations in the TPM3, RYR1 and ACTA1 genes cause 35 to 50 percent ... people with congenital fiber-type disproportion. ACTA1 MYH7 RYR1 SELENON TPM2 TPM3 Congenital fiber-type disproportion can ...
    https://medlineplus.gov/.../congenital-fiber-type-disproportion - Genetics
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