A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction.
Rizzo
Giovanni
G
Pizza
Fabio
F
Scaglione
Cesa
C
Tonon
Caterina
C
Lodi
Raffaele
R
Barbiroli
Bruno
B
Ambrosetto
Paolo
P
Martinelli
Paolo
P
D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D020329:Essential Tremor / Q000175:diagnosis* / Q000235:genetics*; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D020234:Gait Ataxia / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism; D009460:Neurologic Examination; D012333:RNA, Messenger / Q000235:genetics; D018911:Trinucleotide Repeats
D051860:Fragile X Messenger Ribonucleoprotein 1; D012333:RNA, Messenger