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Results 1 - 6 of 6 for acta1
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  1. ACTA1 gene 
    The ACTA1 gene provides instructions for making a protein called skeletal alpha (α)-actin, which is part of the actin protein family. Actin proteins are important ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  2. Intranuclear rod myopathy 
    ... myopathy is caused by a mutation in the ACTA1 gene. This gene provides instructions for making a ... each other so that the muscles can contract.ACTA1 gene mutations that cause intranuclear rod myopathy result ...
    https://medlineplus.gov/genetics/condition/intranuclear-rod-myopathy - Genetics
  3. Actin-accumulation myopathy 
    ... myopathy is caused by a mutation in the ACTA1 gene. This gene provides instructions for making a ... each other so that the muscles can contract.ACTA1 gene mutations that cause actin-accumulation myopathy may ...
    https://medlineplus.gov/.../condition/actin-accumulation-myopathy - Genetics
  4. Cap myopathy 
    ... Its exact prevalence is unknown. Mutations in the ACTA1, TPM2, or TPM3 genes can cause cap myopathy. ... that play important roles in skeletal muscles.The ACTA1 gene provides instructions for making a protein called ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics
  5. Nemaline myopathy 
    ... mutations in one of two genes, NEB or ACTA1. NEB gene mutations account for about 50 percent of all cases of nemaline myopathy and ACTA1 gene mutations account for 15 to 25 percent ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  6. Congenital fiber-type disproportion 
    ... type disproportion. Mutations in the TPM3, RYR1 and ACTA1 genes cause 35 to 50 percent of cases, ... weakness in people with congenital fiber-type disproportion. ACTA1 MYH7 RYR1 SELENON TPM2 TPM3 Congenital fiber-type ...
    https://medlineplus.gov/.../congenital-fiber-type-disproportion - Genetics