First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement.
Sztriha
L
L
Panzeri
C
C
Kálmánchey
R
R
Szabó
N
N
Endreffy
E
E
Túri
S
S
Baschirotto
C
C
Bresolin
N
N
Vekerdy
Z
Z
Bassi
M T
MT
D017668:Age of Onset; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D009128:Muscle Spasticity / Q000235:genetics*; D010243:Paralysis / Q000235:genetics*
C438187:ALS2 protein, human; D020662:Guanine Nucleotide Exchange Factors