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Myotonic Dystrophy Type 2. Myotonic dystrophy is caused by mutations changes in either the DMPK gene in type 1 or the CNBP ZNF9 gene in type 2. In myotonic dystrophy muscles are often unable to relax after contraction.
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Phenotypes of DM1 and DM2 are similar but there are some important differences including the presence or absence of congenital form muscles primarily affected distal vs proximal involved muscle fiber types type 1 vs type 2 fibers and some associated. Myotonic dystrophy type 2 DM2 is characterized by myotonia and muscle dysfunction proximal and axial weakness myalgia and stiffness and less commonly by posterior subcapsular cataracts cardiac conduction defects insulin-insensitive type 2 diabetes mellitus and other endocrine abnormalities. The specific kinds of mutations found in both types of myotonic dystrophy are trinucleotide repeat expansionsThese types of mutations occur when a piece of DNA is abnormally repeated a number of times which makes the gene unstable.
While myotonia involuntary muscle.
Both are autosomal dominant disorders caused by. DM2 is an important diagnosis to consider in patients who have proximal muscle weakness around. Myotonic dystrophy type 2. Type 1 myotonic dystrophy is the most common form in most countries.
