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Juvenile-onset spinal muscular atrophy was observed in an extended family of purebred domestic cats as a fully penetrant, simple autosomal recessive trait. Affected kittens exhibited tremor, proximal muscle weakness, and muscle atrophy beginning at ∼4 mo of age. Apparent loss of function was rapid...

He, Q. C.; Lowrie, C.; Shelton, G. D.; Castellani, R. J.; Menotti-Raymond, M.; Murphy, W.; O'Brien, S. J.; Swanson, W. F.; Fyfe, J. C.
Lippincott Williams & Wilkins, Hagerstown, USA
Pediatric Research, 2005, 57, 3, pp 324-330

The leading genetic cause of infant mortality is spinal muscular atrophy (SMA), a clinically and genetically heterogeneous group of disorders. Previously we described a domestic cat model of autosomal recessive, juvenile-onset SMA similar to human SMA type III. Here we report results of a...

Fyfe, J. C.; Menotti-Raymond, M.; David, V. A.; Brichta, L.; Schäffer, A. A.; Agarwala, R.; Murphy, W. J.; Wedemeyer, W. J.; Gregory, B. L.; Buzzell, B. G.; Drummond, M. C.; Wirth, B.; O'Brien, S. J.
Cold Spring Harbor Laboratory Press, New York, USA
Genome Research, 2006, 16, 9, pp 1084-1090

Feline spinal muscular atrophy (SMA) is an autosomal recessive juvenile onset lower motor neuron disease caused by an ∼140 kb deletion that disrupts expression of 2 genes, limb expression 1 (LIX1) and leucyl/cystinyl aminopeptidase (LNPEP). A previously generated Lnpep knockout (KO) mouse did not...

Wakeling, E. N.; Fyfe, J. C.
Oxford University Press, Cary, USA
Journal of Heredity, 2011, 102, Suppl. 1, pp S32-S39

Most domestic species are susceptible to tetanus, and as in human beings, the limiting factor on incidence is probably vaccination. Some species,...

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