Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P).
Valentino
P
P
Institute of Neurology, University Magna Graecia, Catanzaro, Italy.
Conforti
F L
FL
Pirritano
D
D
Nisticò
R
R
Mazzei
R
R
Patitucci
A
A
Sprovieri
T
T
Gabriele
A L
AL
Muglia
M
M
Clodomiro
A
A
Gambardella
A
A
Zappia
M
M
Quattrone
A
A
D000368:Aged; D001132:Arm / Q000294:innervation / Q000503:physiopathology*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D007839:Functional Laterality / Q000235:genetics; D006801:Humans; D008297:Male; D016472:Motor Neuron Disease / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology*; D009046:Motor Neurons / Q000201:enzymology / Q000473:pathology; D018908:Muscle Weakness / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000294:innervation / Q000473:pathology / Q000503:physiopathology*; D009133:Muscular Atrophy / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics; D010525:Peripheral Nerves / Q000473:pathology / Q000503:physiopathology; D012021:Reflex, Abnormal / Q000235:genetics; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1