TY  - GEN
AU  - Mikesová,E
AU  - Hühne,K
AU  - Rautenstrauss,B
AU  - Mazanec,R
AU  - Baránková,L
AU  - Vyhnálek,M
AU  - Horácek,O
AU  - Seeman,P
TI  - Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis
SN  - 0960-8966
PY  - 2006///0207
KW  - Adolescent
KW  - Arginine
KW  - genetics
KW  - Charcot-Marie-Tooth Disease
KW  - complications
KW  - DNA Mutational Analysis
KW  - methods
KW  - DNA-Binding Proteins
KW  - Female
KW  - Glutamine
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Neural Conduction
KW  - physiology
KW  - Neurologic Examination
KW  - Peripheral Nerves
KW  - physiopathology
KW  - Radiography
KW  - Scoliosis
KW  - Trans-Activators
KW  - Transcriptional Regulator ERG
N1  - Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.nmd.2005.08.001
ER  -