Spinal Muscular Atrophy

Gene involved
LIX1

Mutation tested
140kb del, exons 4-6 (SMA)

Transmission mode : Autosomal recessive
Age of onset : From 3 months old

Publication : Fyfe et al. (2006). An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival.