Charcot-Marie-Tooth disease type 1F
A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..
MONDO:0019011
Charcot-Marie-Tooth disease type 1
is_a
CMT 1F
related
CMT1F
exact
Charcot Marie Tooth disease type 1F
related
Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL
exact
Charcot-Marie-Tooth disease, demyelinating, type 1F
related
Charcot-Marie-Tooth disease, type 1F
exact
NEFL Charcot-Marie-Tooth disease type 1
exact