Article
A natural history study of late onset spinal muscular atrophy types 3b and 4.
Journal of neurology - 1 Sept 2008
Piepers S, van den Berg L H, Brugman F, Scheffer H, Ruiterkamp-Versteeg M, van Engelen B G, Faber C G, de Visser M, van der Pol W-L, Wokke J H J
Abstract excerpt
BACKGROUND: Spinal muscular atrophy (SMA) is caused by a homozygous deletion of the survival motor neuron (SMN)1 gene. The nearly identical SMN2 gene plays a disease modifying role. SMA is classified into four different subtypes based on age of onset and clinical course (SMA types 1-4). The natural history of early onset SMA types 1-3a has been studied extensively. Late onset SMA is rare and disease course has...
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