A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21.
synonyms:
CMT2E,
607684,
OMIM:607684,
ORDO:99939,
Charcot-Marie-Tooth neuropathy type 2E,
ICD10CM:G60.0,
autosomal dominant Charcot-Marie-Tooth disease type 2E