Linked Life Data

153649

Source:http://linkedlifedata.com/resource/pubmed/id/153649

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1979-3-13
pubmed:abstractText
Neuromyopathic changes were found in various limb muscles and in intrinsic laryngeal muscles of a two month old girl. She had been noted to have micrognathia, arthrogryposis and congenital stridor and died as a result of respiratory insufficiency and aspiration. Autopsy revealed an absent left arytenoid cartilage and severe histogenic abnormalities of the brain. Although the muscles involved showed a mainly myopathic pattern, marked signs of peripheral neurogenic involvement were present. These differed from motor neuron disease or aplasia of anterior horn cells. These findings cast a new light on the discussion of unclassified congenital myopathy resembling the picture of congenital muscular "dystrophy". This is the first case of congenital neuromyopathy in which involvement of intrinsic laryngeal muscles has been demonstrated morphologically.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0340-1227
pubmed:author
pubmed:issnType
Print
pubmed:day
12
pubmed:volume
381
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
85-96
pubmed:dateRevised
2008-2-20
pubmed:meshHeading
pubmed:year
1978
pubmed:articleTitle
Involvement of the larynx in a congenital "myopathy", unilateral aplasia of the arytenoid, micrognathia, and malformation of the brain--a new syndrome?
pubmed:publicationType
Journal Article, Case Reports