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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
|
| pubmed:dateCreated |
1991-3-22
|
| pubmed:abstractText |
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.
|
| pubmed:commentsCorrections | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0387-7604
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
12
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
529-32
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading | |
| pubmed:year |
1990
|
| pubmed:articleTitle |
A boy with the Rett syndrome?
|
| pubmed:affiliation |
Department of Paediatrics, Faculty of Medicine, Kuwait University.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|