Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, 20892, USA, Christopher.grunseich@nih.gov.
Christopher
C
Grunseich
Alice B
AB
Schindler
Ke-Lian
KL
Chen
Dara
D
Bakar
Ami
A
Mankodi
Ryan
R
Traslavina
Abhik
A
Ray-Chaudhury
Tanya J
TJ
Lehky
Eva H
EH
Baker
Nicholas J
NJ
Maragakis
Cynthia J
CJ
Tifft
Kenneth H
KH
Fischbeck
D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012497:Sandhoff Disease / Q000235:genetics* / Q000503:physiopathology*; D054821:beta-Hexosaminidase beta Chain / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C488620:SH3TC2 protein, human; C513386:HEXB protein, human; D054821:beta-Hexosaminidase beta Chain