Article
Molecular analysis and electromyoneurographic abnormalities in Croatian children with proximal spinal muscular atrophies.
Clinical chemistry and laboratory medicine - 1 Aug 1998
Barisić N, Sertić J, Billi C, Barić I, Sarnavka V, Babić T, Hrabac P, Begović D, Florentin L, Stavljenić-Rukavina A
Abstract excerpt
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...
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