Asymptomatic homozygous gene carrier in a family with Ile68Leu ATTR amyloidosis: A new endemic region in northern Tuscany?

Journal of Cardiovascular Medicine

Volumn 12, Issue 6, 2011, Pages 450-451

  Perfetto, Federico ^a   Cappelli, Francesco ^a,b   Bergesio, Franco ^a  

^a CAREGGI UNIVERSITY HOSPITAL   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PREALBUMIN;

ABDOMINAL SUBCUTANEOUS FAT; AGED; ASPIRATION BIOPSY; CARDIOMYOPATHY; CARPAL TUNNEL SYNDROME; CASE REPORT; ECHOCARDIOGRAPHY; ELECTROMYOGRAPHY; ENDEMIC DISEASE; GENE MUTATION; HEART AMYLOIDOSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LETTER; MALE; PERIPHERAL BLOOD MONONUCLEAR CELL; PERIPHERAL NEUROPATHY; TRANSTHYRETIN AMYLOIDOSIS;

ADULT; AGED; AMYLOIDOSIS, FAMILIAL; ASYMPTOMATIC DISEASES; CARDIOMYOPATHIES; ENDEMIC DISEASES; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ITALY; MALE; PREALBUMIN;

EID: 79955800781     PISSN: 15582027     EISSN: None     Source Type: Journal    
DOI: 10.2459/JCM.0b013e3283464e12     Document Type: Letter

References (5)

1. Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid 2003; 10:160-184. (Pubitemid 37372400)
2. Nakazato M. Genotype-phenotype relationship in familial amyloid polyneuropathy. Neurol Med Chir (Tokyo) 1998; 48:528-534.
3. Saraiva MJ. Transthyretin mutations in hyperthyroxinemia and amyloid diseases. Hum Mutat 2001; 17:493-503. (Pubitemid 32480084)
4. Falk RH, Dubrey SW. Amyloid heart disease. Prog Cardiovasc Dis 2010; 52:347-361.
5. Rapezzi C, Riva L, Quarta CC, Perugini E, Salvi F, Longhi S, et al. Genderrelated risk of myocardial involvement in systemic amyloidosis. Amyloid 2008; 15:40-48. (Pubitemid 351238493)