Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation.
Dalpozzo
F
F
E. Medea Scientific Institute, Conegliano Research Centre, Conegliano, TV, Italy.
Rossetto
M G
MG
Boaretto
F
F
Sartori
E
E
Mostacciuolo
M L
ML
Daga
A
A
Bassi
M T
MT
Martinuzzi
A
A
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D019204:GTP-Binding Proteins; D020233:Gait Disorders, Neurologic / Q000235:genetics; D006801:Humans; D007223:Infant; D008126:Lod Score; D008297:Male; D008565:Membrane Proteins; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
D008565:Membrane Proteins; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins