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Results 1 - 4 of 4 for Myofibrillar myopathy
  1. FHL1 gene 
    The FHL1 gene provides instructions for making three versions (isoforms) of a protein that plays an important role in muscles used for movement (skeletal muscles) ...
    https://medlineplus.gov/genetics/gene/fhl1 - Genetics
  2. DES gene 
    ... the DES gene have been found to cause myofibrillar myopathy. Most of these mutations change single protein building ... formation of myofibrils. DES gene mutations that cause myofibrillar myopathy impair the function of muscle fibers, causing weakness ...
    https://medlineplus.gov/genetics/gene/des - Genetics
  3. LDB3 gene 
    ... the LDB3 gene have been found to cause myofibrillar myopathy. These mutations change single protein building blocks (amino ... formation of myofibrils. LDB3 gene mutations that cause myofibrillar myopathy impair the function of muscle fibers, causing weakness ...
    https://medlineplus.gov/genetics/gene/ldb3 - Genetics
  4. MYOT gene 
    ... the MYOT gene have been found to cause myofibrillar myopathy. Most of these mutations are located in an ... as exon 2. MYOT gene mutations that cause myofibrillar myopathy change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/myot - Genetics