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Molecular Analysis and Electromyoneurographic Abnormalities in Croatian Children with Proximal Spinal Muscular Atrophies
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Nina Barišić
Veröffentlicht/Copyright:
1. Juni 2005
Abstract
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.
:
Published Online: 2005-06-01
Published in Print: 1998-08-01
Copyright (c) 1999 by Walter de Gruyter GmbH & Co. KG
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- Molecular Analysis and Electromyoneurographic Abnormalities in Croatian Children with Proximal Spinal Muscular Atrophies
