A boy with the Rett syndrome?
Brain Dev
; 12(5): 529-32, 1990.
Article
em En
| MEDLINE
| ID: mdl-2288387
ABSTRACT
A 13-year-old Kuwaiti boy met all necessary and almost all supportive criteria for the Rett syndrome. Electron microscopy of muscle biopsy specimen revealed abnormal mitochondria, a finding that has recently been reported for girls with the Rett syndrome. The results of other laboratory investigations were normal, besides a blood ammonia level of 100 microM/L. The mitochondrial changes observed in girls may be the consequence of an X-borne gene mutation, in which case only the female zygote survives because of the normal allele on the second X-chromosome. However, another genetic possibility discussed is inheritance according to "metabolic interference" of an X-borne allele, which does not rule out the possibility of a male being affected. We assume that the case reported might be a male variant of the Rett syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Rett
/
Músculos
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Brain Dev
Ano de publicação:
1990
Tipo de documento:
Article