Human genes for Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2B1 [DOID:0110156]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.
Synonyms: Charcot-Marie-Tooth disease type 2B1, CharcotMarieTooth disease type 2B1, DOID:0110156, autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1, autosomal recessive axonal CMT4C1 ...