TY - JOUR
T1 - Spinal muscular atrophy, John Griffin, and mentorship.
AU - Sumner, Charlotte J.
PY - 2012/12
Y1 - 2012/12
N2 - Hereditary canine spinal muscular atrophy is an inherited motor neuron disease that occurs in Brittany Spaniels and has remarkable similarities with human spinal muscular atrophy. Both disorders are characterized by proximal limb and truncal muscle weakness of variable severity. Detailed pathological studies indicate that there is early dysfunction of motor neuron synapses, particularly the neuromuscular junction synapse, prior to motor neuron death. This period of synaptic dysfunction may define a critical window of opportunity for disease reversibility in motor neuron disease.
AB - Hereditary canine spinal muscular atrophy is an inherited motor neuron disease that occurs in Brittany Spaniels and has remarkable similarities with human spinal muscular atrophy. Both disorders are characterized by proximal limb and truncal muscle weakness of variable severity. Detailed pathological studies indicate that there is early dysfunction of motor neuron synapses, particularly the neuromuscular junction synapse, prior to motor neuron death. This period of synaptic dysfunction may define a critical window of opportunity for disease reversibility in motor neuron disease.
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UR - http://www.scopus.com/inward/citedby.url?scp=84884329304&partnerID=8YFLogxK
U2 - 10.1111/j.1529-8027.2012.00432.x
DO - 10.1111/j.1529-8027.2012.00432.x
M3 - Review article
C2 - 23279433
AN - SCOPUS:84884329304
SN - 0309-1708
VL - 17 Suppl 3
SP - 52
EP - 56
JO - Advances in Water Resources
JF - Advances in Water Resources
ER -