Familial amyloid polyneuropathy in a Spanish family with a transthyretin deletion (ΔVal 122) presenting with carpal tunnel syndrome [3]

Clinical Genetics

Volumn 58, Issue 5, 2000, Pages 411-412

  Munar Ques, M ^a   Saraiva, M J ^a   Ordeig Calonge, J ^a   Moreira, P ^a   Perez Vidal, R ^a   Puig Pujol, X ^a   Monelis Abel, J ^a   Badal Alter, J M ^a  

^a UNIVERSITY OF PORTO   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; CELL DNA; PREALBUMIN; TRINUCLEOTIDE; VALINE;

ADULT; ALLELE; AMYLOID NEUROPATHY; CARDIOMYOPATHY; CARPAL TUNNEL SYNDROME; CASE REPORT; CODON; EXON; FAMILIAL DISEASE; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HEART FAILURE; HUMAN; LEG; LETTER; ONSET AGE; PRIORITY JOURNAL; PROGENY; SENSORIMOTOR NEUROPATHY; SIBLING; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN; SYMPTOMATOLOGY; TRINUCLEOTIDE REPEAT;

ADULT; AMYLOID NEUROPATHIES; CARPAL TUNNEL SYNDROME; FEMALE; GENE DELETION; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PREALBUMIN; SEQUENCE ANALYSIS, DNA; SPAIN;

EID: 0033665340     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.580515.x     Document Type: Letter

References (4)

1. A trinucleotide deletion in the transthyretin gene (ΔV122) in a kindred with familial amyloidotic polyneuropathy
2. TTR exon scanning in peripheral neuropathies
3. Molecular genetics of familial amyloidotic polyneuropathy
4. Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy in unlikely to be caused by triplet repeat expansions