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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
8
|
| pubmed:dateCreated |
1999-1-7
|
| pubmed:abstractText |
Childhood onset proximal spinal muscular atrophy presents with considerable clinical variability. This study included 14 Croatian children aged 11 days to 8 years with spinal muscular atrophy types I-III verified clinically and electromyoneurographically. DNA of affected children was screened for deletions of exons 7 and 8 of the survival motor neuron gene and for deletion of exon 5 of the neuronal apoptosis inhibitor protein gene. Motor nerve conduction velocity and compound muscle action potential amplitude were decreased in children with spinal muscular atrophy type I and II. Deletions of exons 7 and 8 of the survival motor neuron gene and of exon 5 of the neuronal apoptosis inhibitor protein gene in children with spinal muscular atrophy type I-II suggested existence of more genetic abnormalities as compared to type III. A decrease in compound muscle action potential amplitude and motor nerve conduction velocity in children with spinal muscular atrophy correlated with the disease severity, probably as a result of axonal degeneration. Phenotypic severity in children onset spinal muscular atrophy is directly correlated with the extent of survival motor neuron and neuronal apoptosis inhibitor protein exon deletions.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Aug
|
| pubmed:issn |
1434-6621
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
36
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
667-9
|
| pubmed:dateRevised |
2008-11-21
|
| pubmed:meshHeading |
pubmed-meshheading:9806483-Child,
pubmed-meshheading:9806483-Child, Preschool,
pubmed-meshheading:9806483-Cyclic AMP Response Element-Binding Protein,
pubmed-meshheading:9806483-Electromyography,
pubmed-meshheading:9806483-Humans,
pubmed-meshheading:9806483-Infant,
pubmed-meshheading:9806483-Infant, Newborn,
pubmed-meshheading:9806483-Muscular Atrophy, Spinal,
pubmed-meshheading:9806483-Nerve Tissue Proteins,
pubmed-meshheading:9806483-Phenotype,
pubmed-meshheading:9806483-RNA-Binding Proteins,
pubmed-meshheading:9806483-SMN Complex Proteins,
pubmed-meshheading:9806483-Severity of Illness Index
|
| pubmed:year |
1998
|
| pubmed:articleTitle |
Molecular analysis and electromyoneurographic abnormalities in Croatian children with proximal spinal muscular atrophies.
|
| pubmed:affiliation |
Department of Pediatrics, Zagreb University Hospital Center, Croatia.
|
| pubmed:publicationType |
Journal Article
|