Myotonic dystrophies are autosomal dominant disorders characterized by a variety of multisystemic features including metabolic dysfunctions such as insulin resistance, hyperinsulinemia and a fourfold higher risk of developing Diabetes mellitus type 2. DMs are caused by expanded CTG or CCTG repeats which lead to nuclear accumulation of mutant transcripts deregulating the activity of some splicing regulators and leading to aberrant alternative splicing of different genes. Splicing alteration of insulin receptor (IR) gene is considered one of the causes of metabolic dysfunctions, however it cannot be excluded that post-receptor signalling abnormalities could also contribute to this feature of DM.

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