Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy.
Neurology
; 50(5): 1501-4, 1998 May.
Article
en En
| MEDLINE
| ID: mdl-9596022
ABSTRACT
The genetic basis for myotonic dystrophy (DM) is a CTG trinucleotide repeat expansion. The number of CTG repeats commonly increases in affected individuals of successive generations, in association with anticipation. We identified a large DM family in which multiple members had minimal CTG repeat expansions, and in which the number of CTG repeats remained in the minimally expanded range through at least three, and possibly four, generations. This relative stability of minimal CTG repeat expansions may help to maintain the DM mutation in the population.
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Base de datos:
MEDLINE
Asunto principal:
Repeticiones de Trinucleótidos
/
Distrofia Miotónica
Tipo de estudio:
Prognostic_studies
Límite:
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Neurology
Año:
1998
Tipo del documento:
Article
País de afiliación:
Estados Unidos