Clinical Relevance
Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9 and tibial muscular dystrophy. Further research also suggests that no genetically linked form of any dystrophy or myopathy can be safely excluded from being caused by a mutation on the TTN gene. Autoantibodies to titin are produced in patients with the autoimmune disease scleroderma.
Read more about this topic: Titin
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