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Results 1 - 9 of 9 for Myofibrillar myopathy
  1. Myofibrillar myopathy 
    Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily ...
    https://medlineplus.gov/genetics/condition/myofibrillar-myopathy - Genetics
  2. 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
  3. 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
  4. 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
  5. 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
  6. Muscular Dystrophy (National Library of Medicine)  
    What is muscular dystrophy (MD)? Muscular dystrophy (MD) is a group of more than 30 genetic diseases. They cause weakness of the muscles. Over time, the ...
    https://medlineplus.gov/musculardystrophy.html - Health Topics
  7. Limb-girdle muscular dystrophy 
    ... grouping them with different, related disorders, such as myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, rippling muscle disease, or ...
    https://medlineplus.gov/.../condition/limb-girdle-muscular-dystrophy - Genetics
  8. Hereditary myopathy with early respiratory failure 
    ... with early respiratory muscle involvement Genetic Testing Registry: Myopathy, myofibrillar, 9, with early respiratory failure Hereditary myopathy with ...
    https://medlineplus.gov/...y-myopathy-with-early-respiratory-failure - Genetics
  9. Find a Neuromuscular Disease (Muscular Dystrophy Association)  
    Neuromuscular Disorders/Start Here ... Neuromuscular Disorders ... Muscular Dystrophy Association ... MDA is the #1 health nonprofit advancing research, care and advocacy ...
    https://www.mda.org/disease/list - External Health Links