Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele.
Hum Mol Genet
; 2(8): 1263-6, 1993 Aug.
Article
en En
| MEDLINE
| ID: mdl-7691346
ABSTRACT
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease. The mutation has been identified as an unstable trinucleotide CTG repeat in a sequence encoding a putative cAMP-dependent protein kinase. The CTG repeat varies in length between affected siblings, and generally increases through generations in parallel with increasing severity of the disease. Congenital myotonic dystrophy, which represents the most severe phenotype, is exclusively maternally inherited. In this report, we show, by Northern blot analysis, that no mutated enlarged transcript is detectable in a 20-week-old DM fetus and in two congenitally affected infants. Furthermore, in skeletal and cardiac muscle of the DM fetus, we observed by RNA analysis, including Northern blot and RT-PCR, an unexpectedly low expression of the paternal wild type allele. Varying degrees of expression of the mutant and/or the normal allele might therefore account for the characteristic features of the congenital form and the extreme variability of the disease.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Secuencias Repetitivas de Ácidos Nucleicos
/
Expresión Génica
/
Proteínas Quinasas Dependientes de AMP Cíclico
/
Distrofia Miotónica
Tipo de estudio:
Prognostic_studies
Límite:
Humans
/
Newborn
Idioma:
En
Revista:
Hum Mol Genet
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA MEDICA
Año:
1993
Tipo del documento:
Article
País de afiliación:
Francia