publication . Article . 2004

Disabilities caused by unstable mutations in Costa Rica

Patricia Cuenca; Fernando Morales; Isabel Castro;
Open Access English
  • Published: 01 Sep 2004 Journal: Revista de Biología Tropical (issn: 0034-7744, eissn: 2215-2075, Copyright policy)
  • Publisher: Vicerractoría Investigación
Abstract
Myotonic dystrophy and fragile X syndrome are two genetically determined relatively common disabilities. Both are examples of a new type of mutation mechanism called unstable or dynamic mutations, triple repeats expansions or DNA amplification. Fragile X syndrome is recognized as the main cause of hereditary mental retardation and myotonic dystrophy is considered the most common muscular dystrophy of adults. This is a prospective non randomized study of clinically affected people, in order to confirm the diagnosis with molecular techniques (Southern blot and PCR) and to perform cascade screening of the rest of the family to offer them adequate ...
Subjects
free text keywords: diagnóstico molecular, mutaciones inestabtes, síndrome del cromosoma X frágil,, Costa Rica, molecular diagnsosis, distrofia miotónica, mutaciones inestables, QH301-705.5, myotonic dystrophy, fragile X syndrome, síndrome del cromosoma X frágil, unstable mutations, Biology (General)
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publication . Article . 2004

Disabilities caused by unstable mutations in Costa Rica

Patricia Cuenca; Fernando Morales; Isabel Castro;