Dystrophinopathy in a young boy with Klinefelter's syndrome.
Muscle Nerve
; 21(6): 792-5, 1998 Jun.
Article
em En
| MEDLINE
| ID: mdl-9585334
ABSTRACT
We report the first case of a child with mild dystrophinopathy associated with Klinefelter's syndrome (karyotype 47, XXY). This 3.5-year-old boy was affected by some symptoms suggestive of Becker's muscular dystrophy. Dystrophin immunostaining and immunoblotting procedures confirmed the diagnosis, but polymerase chain reaction-directed gene analysis failed to reveal any macrodeletion. Methylation-based assay did not show preferential X-inactivation. This confirmed the coexistence of the two active X-chromosomes (one of which was of paternal origin), thus accounting for the mild form of dystrophinopathy in this child affected by Klinefelter's syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Klinefelter
/
Distrofias Musculares
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Muscle Nerve
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Itália