[Lafora disease and founder effect in a small neotropical locality]. / Enfermedad de Lafora y efecto fundador en una pequena localidad neotropical.
Rev Biol Trop
; 48(2-3): 703-6, 2000.
Article
em Es
| MEDLINE
| ID: mdl-11354978
The Lafora disease is an uncommon genetic condition. Four cases (two families) were detected in Zarcero, a small town in Costa Rica (population under 2000). They belonged to two separate consanguineous marriages but both families had common ancestors. The diagnosis of Lafora disease was confirmed by liver biopsy in one of the patients. The ages of onset were 13, 14, 16 and 17 years. Patients died after four, nine, six and five years of severe progressive physical and mental deterioration, respectively. The gene for Lafora disease arrive to Zarcero from one of its founders. There are no other cases reported from Costa Rica: this is an example of genetic drift, or more specifically, founder effect.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Efeito Fundador
/
Doença de Lafora
Limite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
País/Região como assunto:
America central
/
Costa rica
Idioma:
Es
Revista:
Rev Biol Trop
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Costa Rica
País de publicação:
Costa Rica