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Amyloidosis due to the transthyretin Ser77Tyr mutation (ATTRS77Y) is a rare autosomal‐dominant disorder, characterized by carpal‐tunnel syndrome, poly‐ and autonomic‐neuropathy, and cardiomyopathy. However, related symptoms and signs are often nonspecific… Click to show full abstract
Amyloidosis due to the transthyretin Ser77Tyr mutation (ATTRS77Y) is a rare autosomal‐dominant disorder, characterized by carpal‐tunnel syndrome, poly‐ and autonomic‐neuropathy, and cardiomyopathy. However, related symptoms and signs are often nonspecific and confirmatory tests are required. We describe the age and frequency of early symptoms and diagnostic features among individuals of Jewish Yemenite descent in Israel.
Keywords:
diagnostic features;
israel initial;
ser77tyr transthyretin;
amyloidosis israel;
transthyretin amyloidosis;
amyloidosis
Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2023
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Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2023
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!