Spinocerebellar ataxia type 2 (SCA2) associated with retinal pigmentary degeneration.
Rufa
Alessandra
A
Unit of Neurometabolic Disease and Research Centre for Diagnosis, Prevention and Therapy of Neurohandicaps, University of Siena, Siena, Italy.
Dotti
Maria Teresa
MT
Galli
Lucia
L
Orrico
Alfredo
A
Sicurelli
Francesco
F
Federico
Antonio
A
D000483:Alleles; D000067719:Ataxin-7; D000067528:Ataxins; D002869:Chromosome Aberrations; D003937:Diagnosis, Differential; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics; D010857:Pigment Epithelium of Eye; D011506:Proteins / Q000235:genetics; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*
C000593829:ATXN7 protein, human; D000067719:Ataxin-7; D000067528:Ataxins; D009419:Nerve Tissue Proteins; D011506:Proteins