Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.
MONDO:0018995
Charcot-Marie-Tooth disease type 4
is_a
CMT4F
exact
Charcot-Marie-Tooth disease type 4 caused by mutation in PRX
exact
Charcot-Marie-Tooth disease type 4 caused by mutation in Prx
exact
Charcot-Marie-Tooth disease, demyelinating, type 4F
related
Charcot-Marie-Tooth disease, type 4F
exact
PRX Charcot-Marie-Tooth disease type 4
exact
Prx Charcot-Marie-Tooth disease type 4
exact