Linked Life Data

8411905

Source:http://linkedlifedata.com/resource/pubmed/id/8411905

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1993-11-23
pubmed:abstractText
We report a case of congenital myotonic dystrophy (CMD) in which not only the mother but also the paternal family is affected by myotonic dystrophy (DM). Clinical symptoms consisted of poor spontaneous movements, typical facial appearance, respiratory insufficiency attributable to diaphragmatic weakness, feeding difficulties due to impaired gastrointestinal tract motility and poor sucking, joint contractures and thin ribs. She died at 7 month of age, still ventilated, from aspiration pneumonia. By employing molecular genetic methods we were able to show that the affected child was not homozygous for the DM gene.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0300-8630
pubmed:author
pubmed:issnType
Print
pubmed:volume
205
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
367-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
[Direct genotype analysis in congenital myotonic dystrophy with an unusual family anamnesis].
pubmed:affiliation
Zentrum für Kinderheilkunde, Universität Bonn.
pubmed:publicationType
Journal Article, English Abstract, Case Reports