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...
Topics
- Child
- Child, Preschool
- Cyclic AMP Response Element-Binding Protein
- Electromyography
- Humans
- Infant
- Infant, Newborn
- Muscular Atrophy, Spinal
- Nerve Tissue Proteins
- Phenotype
- RNA-Binding Proteins
- SMN Complex Proteins
- Severity of Illness Index