Kw 0144
cv_term_accession
KW-0144
canonical
uniprot_keyword
KW-0144
canonical
name
Charcot-Marie-Tooth disease
uniprot
definition
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.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords