Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy.
Neuropathology
; 21(1): 45-52, 2001 Mar.
Article
en En
| MEDLINE
| ID: mdl-11304042
ABSTRACT
The occasional observation of neurogenic features in oculopharyngeal muscular dystrophy (OPMD) is unclear both in nosological and in etiological respects. Studies are reported here of a family with autosomal-dominant OPMD involving seven members over three generations. In three of them muscle biopsies were performed. Two of the patients (a 45-year-old sister and a 57-year-old brother of the third generation) were studied in more detail and, in addition to the typical changes of OPMD, showed a neurogenic component both by electrophysiology and morphology. Molecular genetic investigations revealed a repeat unit of (GCG/GCA)13 in the first exon of the poly(A)binding-protein2 gene in both siblings. A possible association of this unusually long triplet repeat extension with the atypical phenotype is considered and has to be verified in other cases.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Salud de la Familia
/
Proteínas de Unión al ARN
/
Repeticiones de Trinucleótidos
/
Distrofias Musculares
Tipo de estudio:
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Neuropathology
Asunto de la revista:
NEUROLOGIA
/
PATOLOGIA
Año:
2001
Tipo del documento:
Article
País de afiliación:
Alemania