Linked Life Data

1605232

Source:http://linkedlifedata.com/resource/pubmed/id/1605232

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
1992-7-16
pubmed:abstractText
In 2 unrelated families 9 males presented with ataxia, apraxia, and neuropsychological abnormalities or mental deficiency, inherited as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. The symptoms were present in early childhood and were non-progressive. Additional findings in 2 males were congenital "club-feet" and generalized seizures. The affected males were 13-62 years old at the time of our examination. Chromosome abnormalities including fragile X fra(X) could not be demonstrated in any case. Results of metabolic screenings were also normal. The clinical picture with X-linked recessive inheritance distinguishes this syndrome from previously described inherited hereditary ataxias.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
498-504
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:articleTitle
New X-linked syndrome with apraxia, ataxia, and mental deficiency: clinical, cytogenetic and neuropsychological studies in two Danish families.
pubmed:affiliation
Department of Medical Genetics, John F. Kennedy Institute, Glostrup, Denmark.
pubmed:publicationType
Journal Article, Case Reports