Linked Life Data

1785661

Source:http://linkedlifedata.com/resource/pubmed/id/1785661

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1992-3-18
pubmed:abstractText
The authors report a seven-month-old boy with severe hypotonia, poor spontaneous movements, breathing difficulties and recurrent respiratory infections, dysmorphisms and a peculiar movement disorder: minipolymyoclonus (MPM), previously reported only in spinal muscular atrophies. MPM is characterized by nonrhythmic myoclonic jerks associated with a rhythmic tremor of the extended fingers polygraphically detected. A muscle biopsy showed pathological changes typical of congenital nemaline myopathy (CNM). The relationship between MPM and CNM may be explained on the presumptive basis of the "neurogenic" nature of this congenital myopathy or by the non-specificity of this clinical sign.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0387-7604
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
358-62
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Minipolymyoclonus in congenital nemaline myopathy: a nonspecific clinical marker of neurogenic dysfunction.
pubmed:affiliation
Department of Child Neuropsychiatry, Verona University.
pubmed:publicationType
Journal Article, Case Reports