Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
نویسندگان
چکیده
منابع مشابه
Phenotypic expressions of hereditary Transthyretin Ala97Ser related Amyloidosis (ATTR) in Taiwanese
BACKGROUND The disease course and early signs specific to ATTR Ala97Ser, the most common endemic mutation in Taiwan, have not been well described. Since new medications can slow down the rate of disease progression, the early diagnosis of this heterogeneous and fatal disease becomes critical. METHODS We retrospectively reviewed the characteristics of genetically confirmed ATTR Ala97Ser patien...
متن کاملGuideline of transthyretin-related hereditary amyloidosis for clinicians
Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy. Given its phenotypic unpredictability and variability, transthyretin amyloidosis can be difficult to recognize and manage. Misdiagnosis is common, and patients may wait several years before accurate diagnosis, risking additional signi...
متن کاملEarly identification of transthyretin-related hereditary cardiac amyloidosis.
Amyloidosis is characterized by the extracellular deposition of highly-organized fibrillar aggregates showing a cross-beta super-secondary structure (1). Several proteins are amyloidogenic in humans, resulting in different clinical presentations, either systemic or localized. Transthyretin-related hereditary amyloidosis (ATTR) is a late-onset, dominantly inherited systemic amyloidosis. Heterozy...
متن کامل[Familial approach in hereditary transthyretin cardiac amyloidosis].
Cardiac amyloidosis is a disease of complex diagnosis and treatment. Some subtypes of cardiac amyloidosis are inherited. Among these, the most common variant is caused by mutations in the transthyretin gene. Correct identification of amyloidosis produced by a genetic defect is of great importance because it modifies the diagnostic and therapeutic approach in patients and their families. We desc...
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ژورنال
عنوان ژورنال: Journal of Visualized Experiments
سال: 2018
ISSN: 1940-087X
DOI: 10.3791/57743