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Myofibrillar myopathy
- Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily ...
- 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) ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- 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 ...
- ... grouping them with different, related disorders, such as myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, rippling muscle disease, or ...
- ... with early respiratory muscle involvement Genetic Testing Registry: Myopathy, myofibrillar, 9, with early respiratory failure Hereditary myopathy with ...