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Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1
(European Journal of Human Genetics p.1-8, 2014-07-23)
Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat (g.17294_17296(45_1000)) with more repeats associated with increased disease severity and reduced age at onset. Expanded disease-associated ...
Abordaje integral de pacientes costarricenses afectados con la enfermedad de Huntington y sus familiares
Integral Management of Costa Rican Patients with Huntington’s Disease and their Families
(2011)
Objetivo: Realizar el diagnóstico molecular a personas afectadas con la enfermedad de
Huntington y familiares con el 50% de riesgo, y brindarles asesoramiento genético, seguimiento
y evaluación psicológica y clínica, con ...