A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.
AUTOR(ES)
Uemichi, T
RESUMO
An American kindred with systemic amyloidosis presenting with carpal tunnel syndrome, peripheral neuropathy, and cardiomyopathy is reported. The transthyretin gene of a patient was analysed by direct DNA sequencing and both cytosine and thymine were present at the first base of codon 24. This new point mutation in exon 2 results in the amino acid substitution of serine for proline in the A-B loop of the transthyretin molecule. DNA testing for this mutant allele by restriction fragment length polymorphism analysis based on the polymerase chain reaction is described.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050375Documentos Relacionados
- A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy.
- A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy.
- A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.
- A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.
- Noninvasive cardiovascular findings in familial amyloid polyneuropathy.