Abstract
Previous studies showed that SMN2 copy number correlates inversely with the disease severity. Our aim was to evaluate SMN2 copy numbers and the Hammersmith functional motor scale in 87 patients with SMA II in order to establish whether, within SMAII, the number of copies correlates with the severity of functional impairment. Our results showed a relative variability of functional scores, but a significant correlation between the number of SMN2 genes and the level of function.
Publication types
-
Evaluation Study
-
Multicenter Study
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Child
-
Child, Preschool
-
Cyclic AMP Response Element-Binding Protein / genetics*
-
Female
-
Gene Dosage / genetics*
-
Humans
-
Male
-
Nerve Tissue Proteins / genetics*
-
RNA-Binding Proteins / genetics*
-
SMN Complex Proteins
-
Severity of Illness Index*
-
Spinal Muscular Atrophies of Childhood / genetics*
-
Spinal Muscular Atrophies of Childhood / physiopathology
-
Statistics as Topic
-
Survival of Motor Neuron 2 Protein
Substances
-
Cyclic AMP Response Element-Binding Protein
-
Nerve Tissue Proteins
-
RNA-Binding Proteins
-
SMN Complex Proteins
-
SMN2 protein, human
-
Survival of Motor Neuron 2 Protein