P16.8 Clinical and genetic findings in an unusual pedigree with infantile spinal muscular atrophy caused by a compound heterozygous mutation in the SMN1 gene

Autor: Lehman, I., Eggermann, T., Lochmüller, H., Sertie, J., Barišić, N.
Zdroj: In European Journal of Paediatric Neurology 2011 15 Supplement 1:S97-S97
Databáze: ScienceDirect