engleski

Molecilar analysis and electromyoneurographic abnormalities in Croatian children with proximal spinal muscular atrophies

This study included 14 Croatian children aged 11 days to 8 years with spinal muscular atrophy types I-III verified clinicaly and electromyoneurographically. DNA of afected children was screened for deletions of exons 7 and 8 of the survival motor neutron gene and for deletion of exon 5 of the neuronal apoptosis inhibitor protein gene. Phenotypic severity in children onest spinal muiscular atrophy is directly correlated with the extent of survival motor neuron and neuronal apoptasis inhibitor protein exon deletions

spinal muscular atrophy; genetic abnormalities; electromyoneurography

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