Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1987-11-20
pubmed:abstractText
The authors report a case of Schwartz-Jampel syndrome (osteo-chondro muscular dystrophy with myotonia). The diagnosis was made when the child was 3 1/2 year old. Then, there were no clinical symptoms; however, the electromyographic and histologic patterns of the disease were found. Two years later, the clinical status provided confirmation of the diagnosis. The discussion focuses on the difficulty of the diagnosis and the relevance of electrophysiological studies and muscular biopsy in order to distinguish this disease from others with similar clinical pattern (as Freeman-Sheldon, or Marden Walker syndromes).
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0021-7743
pubmed:author
pubmed:issnType
Print
pubmed:volume
35
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
243-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1987
pubmed:articleTitle
[Value of muscle studies in the early diagnosis of Schwartz-Jampel syndrome].
pubmed:affiliation
Service de Pédiatrie B et Génétique Médicale, Hôtel-Dieu, Clermont-Ferrand.
pubmed:publicationType
Journal Article, English Abstract, Case Reports