1. A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy.
- Author
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Pica EC, Pramono ZA, Verma KK, San LP, and Chee YW
- Subjects
- Age of Onset, Aged, Amino Acid Substitution, Amyloid Neuropathies ethnology, Asian People, Autonomic Nervous System Diseases genetics, Autonomic Nervous System Diseases physiopathology, Base Sequence, Cardiomyopathies genetics, Cardiomyopathies physiopathology, China ethnology, DNA Mutational Analysis, Disease Progression, Female, Genetic Testing, Humans, Male, Molecular Sequence Data, Pedigree, Penetrance, Phenotype, Point Mutation genetics, Singapore, Amyloid Neuropathies genetics, Amyloid Neuropathies physiopathology, Genetic Predisposition to Disease genetics, Mutation genetics, Prealbumin genetics
- Abstract
We report a Chinese patient with amyloidotic polyneuropathy associated with a novel transthyretin mutation (V32A). He presented with slowly progressive sensorimotor polyneuropathy accompanied by autonomic dysfunction and cardiomyopathy by echocardiography. This mutation is likely to be associated with late onset and low-penetrance phenotype.
- Published
- 2005
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