Linked Life Data

10480209

Source:http://linkedlifedata.com/resource/pubmed/id/10480209

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1999-11-4
pubmed:abstractText
The clinical courses, neuroimaging and muscle biopsy findings of two infants born to an inbred Arab family are described. They had a syndrome of micrencephaly with simplified gyral pattern, abnormal myelin formation and arthrogryposis. Increased variation of fiber size was seen in the muscle biopsy, creatine kinase, however was normal. Large areas of muscle were replaced by adipofibrous tissue. The infants had dysmorphic features consistent with the fetal akinesia/hypokinesia sequence. The abnormalities were suggestive of microlissencephaly probably associated with a dysgenetic process in the muscles. The syndrome showed an autosomal recessive inheritance.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
141-5
pubmed:dateRevised
2008-1-16
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.
pubmed:affiliation
Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University.
pubmed:publicationType
Journal Article, Case Reports