Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features.
Amir DoriMichael AradYishay WasserstrumArthur PollakVera NikitinMerav Ben-DavidJana ShamashAyelet Hashachar NahumEfrat Shavit-SteinLiran DomachevskyRafael KupersteinDan DominissiniNatalia ShelestovichMenachem SadehElon PrasLior GreenbaumPublished in: Annals of clinical and translational neurology (2023)
ATTRS77Y symptoms commonly occur after age 50, but may begin earlier. Median neuropathy, skin denervation and cardiomyopathy are frequently identified. Symptoms may be absent in patients and common in amyloid-negative carriers.