Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes.
Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, , Newcastle upon Tyne, Tyne and Wear, UK.
Patrick
P
Yu-Wai-Man
Angela
A
Pyle
Helen
H
Griffin
Mauro
M
Santibanez-Korev
Rita
R
Horvath
Patrick F
PF
Chinnery
D000328:Adult; D000368:Aged; D005260:Female; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype; D012160:Retina / Q000473:pathology*; D012164:Retinal Diseases / Q000235:genetics* / Q000473:pathology*; D020754:Spinocerebellar Ataxias / Q000151:congenital* / Q000235:genetics / Q000473:pathology
D006360:Heat-Shock Proteins; C404403:SACS protein, human
Genetics; Optic Nerve