Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.

Mikesová, E

Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. [electronic resource] - Neuromuscular disorders : NMD Nov 2005 - 764-7 p. digital

Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

0960-8966

10.1016/j.nmd.2005.08.001 doi


Adolescent
Arginine--genetics
Charcot-Marie-Tooth Disease--complications
DNA Mutational Analysis--methods
DNA-Binding Proteins--genetics
Female
Glutamine--genetics
Humans
Male
Mutation
Neural Conduction--physiology
Neurologic Examination
Peripheral Nerves--physiopathology
Radiography
Scoliosis--complications
Trans-Activators--genetics
Transcriptional Regulator ERG