Table 1.

Usual phenotypes and atypical features of the BSCL2, MORC2, HINT1, LITAF, GARS1, and GDAP1 genes.

Gene	Phenotypes	Atypical Clinical Features
BSCL2	AD-CMT2	pyramidal signs [18,22,24,25] respiratory dysfunction [18] sensory hearing loss [22]
MORC2	AD-CMT2	asymmetric proximal weakness [28] pyramidal signs [28] cerebellar atrophy [28] diaphragmatic paralysis [28] tongue atrophy [28] mental retardation [28] spinal cord atrophy [28]
HINT1	AD-CMT2	Neuromyotonia [31,32] neuro-psychiatric symptoms [32,33]
LITAF	AD-CMT1	young age of onset [36] foot deformities [35,37] plantar ulcers [35,37] scoliosis [35,37]
GARS1	AD-CMT2	prominent distal upper limb involvement [16]
GDAP1	AR-CMT1/AD-CMT2	early and rapidly progressive phenotype (AR-CMT1) [41]