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Results 11 - 20 of 35 for Skeletal myopathy
  1. DNM2 gene 
    ... a condition that is characterized by muscle weakness (myopathy) in the skeletal muscles, which are the muscles used for movement. Most of these mutations change single DNA building blocks (nucleotides) in ... centronuclear myopathy are described as "gain-of-function" because they ...
    https://medlineplus.gov/genetics/gene/dnm2 - Genetics
  2. MYH7 gene 
    ... which include type II myosin, within type I skeletal muscle fibers. The MYH7 gene mutations that cause myosin storage myopathy change amino acids in the tail region of ...
    https://medlineplus.gov/genetics/gene/myh7 - Genetics
  3. MT-CYB gene 
    ... of mutated mitochondrial DNA is highest in the skeletal muscles, which explains the finding of myopathy in these individuals. It is unclear why the ...
    https://medlineplus.gov/genetics/gene/mt-cyb - Genetics
  4. BIN1 gene 
    ... a condition that is characterized by muscle weakness (myopathy) in the skeletal muscles, which are the muscles used for movement. ...
    https://medlineplus.gov/genetics/gene/bin1 - Genetics
  5. STAC3 gene 
    ... Beam KG. Stac3 has a direct role in skeletal muscle-type excitation-contraction coupling that is disrupted by a myopathy-causing mutation. Proc Natl Acad Sci U S ...
    https://medlineplus.gov/genetics/gene/stac3 - Genetics
  6. FHL1 gene 
    ... dystrophy, these conditions are known as FHL1-related myopathies or FHL1opathies. Features common among these disorders include skeletal muscle weakness, particularly in the shoulders and lower ...
    https://medlineplus.gov/genetics/gene/fhl1 - Genetics
  7. DES gene 
    ... contraction. Although cardiomyopathy is a sign of myofibrillar myopathy, these forms of cardiomyopathy are not associated with weakness of the skeletal muscles.Mutations in the DES gene can also ...
    https://medlineplus.gov/genetics/gene/des - Genetics
  8. LDB3 gene 
    ... mutations are not associated with weakness of the skeletal muscles. Researchers have identified at least two mutations in the LDB3 gene that cause dilated cardiomyopathy without the other features of myofibrillar myopathy. These mutations, written as Asp117Asn and Lys136Met, change ...
    https://medlineplus.gov/genetics/gene/ldb3 - Genetics
  9. SLC25A4 gene 
    ... are unsure how deletions of mtDNA lead to myopathy and hypertrophic cardiomyopathy. AAC1 adenine nucleotide translocator 1 (skeletal muscle) ADP,ATP carrier protein 1 ADP,ATP ...
    https://medlineplus.gov/genetics/gene/slc25a4 - Genetics
  10. RYR1 gene 
    ... Health Condition MedlinePlus Genetics provides information about Centronuclear myopathy More About This Health Condition CCD MHS MHS1 PPP1R137 ryanodine receptor 1 (skeletal) ryanodine receptor type1 RYDR RYR RYR-1 RYR1_ ...
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics
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