To describe the characteristic ophthalmic phenotypes of a large Chinese family with familial amyloid polyneuropathy due to a missense mutation in transthyretin (TTR) (c.307 C>G). Twenty-seven ...
"Alterations in axonal membrane and channel function occur early in the disease course, prior to discernable large fibre involvement, and has the potential to be used as an early biomarker of ...
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