Article
An aggressive form of familial amyloid polyneuropathy caused by a Glu54Gly mutation in the transthyretin gene.
European journal of neurology - 1 Aug 2005
Kim H S, Kim S-M, Kang S-W, Jung S-C, Lee K-S, Kim T-S, Choi Y-C
Abstract excerpt
We report a patient with familial amyloid polyneuropathy. Gene analysis revealed a heterozygous Glu54Gly substitution (A-to-G change) in the transthyretin gene. This is the first case of a Glu54Gly substitution that was devoid of a Gly6Ser substitution. Compared with the previously reported case with compound heterozygotes of Glu54Gly and Gly6Ser, the age of onset in our case is much younger and another...
Topics
- Amyloid Neuropathies, Familial
- DNA Mutational Analysis
- Family Health
- Female
- Glutamic Acid
- Glycine
- Humans
- Male
- Mutation
- Nerve Fibers, Myelinated
- Prealbumin
- RNA, Messenger
- Reverse Transcriptase Polymerase Chain Reaction