HMSNII | definition of HMSNII by Medical dictionary
KIF1B (redirected from HMSNII)
KIF1B A gene on chromosome 1p36.2 that encodes a motor protein that transports mitochondria and synaptic vesicle precursors.
KIF1B mutations cause Charcot-Marie-Tooth disease, type 2A1.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive
CMT type 2 (CMT2 HMSNII
) the neuronal form shows normal or moderate reduction in motor NCVs and decreased amplitude normal muscle stretch reflexes and no hypertrophic characteristics on nerve biopsy.