Tremor-Ataxia syndrome and primary ovarian insufficiency in an FMR1 premutation carrier
Colomb. med; 48 (3), 2017
Abstract Introduction: The FMR1 gene has four allelic variants according to the number of repeats of the CGG triplet. Premutation carriers with between 55 and 200 repeats are susceptible to developing pathologies such as tremor and ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insuff...
Ataxia/genética, Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética, Síndrome del Cromosoma X Frágil/genética, Insuficiencia Ovárica Primaria/genética, Temblor/genética, Alelos, Southern Blotting, Reacción en Cadena de la Polimerasa, Repeticiones de Trinucleótidos/genética