Pane, Marika

Longitudinal assessments in discordant twins with SMA. [electronic resource] - Neuromuscular disorders : NMD Oct 2017 - 890-893 p. digital

Publication Type: Case Reports; Journal Article

1873-2364

10.1016/j.nmd.2017.06.559 doi


Female
Gene Dosage
Homozygote
Humans
Infant
Male
Motor Neurons--metabolism
Muscular Atrophy, Spinal--diagnosis
Pedigree
Phenotype
Sequence Deletion
Survival of Motor Neuron 1 Protein--genetics