KIF1B
(redirected from HMSNII)KIF1B
A gene on chromosome 1p36.2 that encodes a motor protein that transports mitochondria and synaptic vesicle precursors.Molecular pathology
KIF1B mutations cause Charcot-Marie-Tooth disease, type 2A1.
Molecular pathology
KIF1B mutations cause Charcot-Marie-Tooth disease, type 2A1.
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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.
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