Linked Life Data

951037

Source:http://linkedlifedata.com/resource/pubmed/id/951037

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
33
pubmed:dateCreated
1976-10-2
pubmed:abstractText
A syndrome characterized by benig muscular dystrophy, hypergonadotropic hypogonadism, congenital cataract and normal karyotype is reported. A similar condition was described by Bassöe. The patient's family tree revealed a number of isolated cases presenting some component of the syndrome, suggesting that this is connected with a recessive autosomic gene, probably with pleiotropic effect. The muscular disorder was absent in most of the other family members and its clinical signs were probably favoured by the low plasma level of testosterone with consequent reduced myotrophic action. The simultaneous presence of congenital cataract links the syndrome on the one hand to Steinert's myotonic dystrophy, although there were no clinical or electromyographic signs of myotonia, and on the other to other hereditary or familial neuroectodermal syndromes, compared to which it presents specific differential traits.
pubmed:language
ita
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0026-4806
pubmed:author
pubmed:issnType
Print
pubmed:day
7
pubmed:volume
67
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2104-12
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1976
pubmed:articleTitle
[Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract].
pubmed:publicationType
Journal Article, English Abstract, Case Reports