Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1982-6-24
pubmed:abstractText
Congenital muscular dystrophy (muscular dystrophy presenting from birth) with a wide spectrum of clinical severity is reported in 24 patients. Progression of symptoms was evident, leading to significant motor handicap in all patients and death in eight cases. Muscle enzyme studies did not always correlate with the severity of the disease. In six cases, initial muscle biopsy showed only minimal, nonspecific abnormalities; however, characteristic dystrophic changes were evident on repeat biopsies. Histochemical and electron microscopic studies did not show consistent changes, except type I predominance in a few cases. Evidently the condition is rarely, if ever, benign and the clinical course cannot be predicted from the initial presentation or early pathologic findings. Clinical, laboratory and pathologic characteristics are outlined for the diagnosis of this disorder.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0022-3476
pubmed:author
pubmed:issnType
Print
pubmed:volume
100
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
692-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1982
pubmed:articleTitle
Congenital muscular dystrophy: a clinicopathologic report of 24 cases.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't