has material basis in germline mutation in PMP2 autosomal dominant disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, demyelinating, type 1G https://www.malacards.org/card/charcot_marie_tooth_disease_demyelinating_type_1g https://www.malacards.org/card/charcot_marie_tooth_disease_type_1g MEDGEN:1648290 GARD:0017851 MONDO:0033135 DOID:0111560 PMP2-related Charcot-Marie-Tooth disease type 1 Orphanet:476394 Charcot-Marie-Tooth disease, demyelinating, type 1G A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. OMIM:618279 CMT1G UMLS:C4748940