Presymptomatic diagnosis of spinal muscular atrophy (SMA) III confirmed by deletion analysis of the survival motor neuron gene.
Brahe
C
C
Zappata
S
S
Bertini
E
E
D002648:Child; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009046:Motor Neurons / Q000473:pathology*; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics