Article
Novel transthyretin gene mutation in familial amyloid neuropathy in India: Case.
Annals of African medicine - 1 Jan 2000
Rohatgi Shalesh, Nirhale Satish, Manohar Poonkodi, Rao Prajwal, Naphade Pravin, Khan Furqan Mohd Akram, Dave Dhaval, Sravya Kotaru V V, Gupta Sahil, Gitay Advait, Dubey Prashant
Abstract excerpt
Familial amyloid polyneuropathy (PN), also known as amyloid transthyretin (TTR)-PN is an autosomal dominant adult-onset fatal disease, if not treated. It occurs due to mutations in (TTR) gene which leads to a faulty TTR protein which folds up to form amyloid and gets deposited mainly on nerves and causes length-dependent PN and autonomic dysfunction. We report a case of a 45-year-old female who presented with...
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