| description | Protein which, if defective, causes Charcot-Marie-Tooth disease (CMT), a heterogeneous group of hereditary motor and sensory neuropathies (HMSN) characterized by distal muscular atrophy and weakness, hollow feet, absent or diminished deep-tendon reflexes and impaired sensation. CMT is classified into two major classes. CMT type 1 includes demyelinating neuropathies that are characterized by nerve conductance velocities (NCVs) less than 38m/s and segmental demyelination and remyelination; CMT type 2 includes axonal neuropathies that are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration |
Ontology Term --> All ancestors
Ontology Term --> All descendants
Ontology Term --> Direct children
Ontology Term --> Direct parents
