Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).
MONDO:0018995
Charcot-Marie-Tooth disease type 4
is_a
CMT4B3
exact
Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1
exact
Charcot-Marie-Tooth disease with focally folded myelin
exact
Charcot-Marie-Tooth disease, type 4B3
related
SBF1 Charcot-Marie-Tooth disease type 4
exact