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Results 1 - 10 of 35 for Skeletal myopathy
  1. ACTA1 gene 
    ... Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  2. TPM3 gene 
    ... Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  3. TPM2 gene 
    ... Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  4. TNNI2 gene 
    ... Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ...
    https://medlineplus.gov/genetics/gene/tnni2 - Genetics
  5. TNNT3 gene 
    ... Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med ( ...
    https://medlineplus.gov/genetics/gene/tnnt3 - Genetics
  6. SCN4A gene 
    ... C, Desaphy JF. Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy. Cells. 2021 Jun ...
    https://medlineplus.gov/genetics/gene/scn4a - Genetics
  7. LAMP2 gene 
    ... weakening of the heart muscle (cardiomyopathy), weakening of skeletal muscles (myopathy), and intellectual disabilities. The LAMP2 gene variants that ...
    https://medlineplus.gov/genetics/gene/lamp2 - Genetics
  8. CAV3 gene 
    ... C. Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. Handb Clin Neurol. 2011;101:135-42. doi: ...
    https://medlineplus.gov/genetics/gene/cav3 - Genetics
  9. OPA1 gene 
    ... movement and sensation (motor and sensory neuropathy), and skeletal muscle weakness (myopathy). The most severe condition cause by OPA1 gene ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  10. TTN gene 
    ... a condition that is characterized by muscle weakness (myopathy) in the skeletal muscles. Most of these variants alter the way ... have been identified in people with early-onset myopathy with fatal ... affects both skeletal and cardiac muscle. These genetic changes occur near ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
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