Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. [electronic resource]
- Journal of neurology Sep 2002
- 1211-9 p. digital
Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
0340-5354
10.1007/s00415-002-0811-4 doi
Adolescent Adult Aged Child Child, Preschool Cyclic AMP Response Element-Binding Protein Female Haplotypes--genetics Humans Infant Male Middle Aged Muscular Atrophy, Spinal--genetics Nerve Tissue Proteins--genetics Pedigree Phenotype RNA, Messenger--genetics RNA-Binding Proteins SMN Complex Proteins Survival of Motor Neuron 1 Protein Survival of Motor Neuron 2 Protein