Table 1  Genetic, Clinical, and Laboratory Findings   a  ‘Motor’ indicates distal lower limbs weakness/atrophy or gait disturbance, and ‘Sensory’ indicates decreased superficial sensation or dysesthesia in lower limbs. b  Scores indicating manual muscle testing (MMT) grade in the distal lower limbs. c  Brain atrophy is evaluated by CT or MRI. d  Nerve conduction study of Median nerve. Ax = axonal; CH = compound heterozygous; CT computed tomography; dCMAP = distal compound muscle action potential (mV); De = demyelinating; DL = distal latency (ms); DTRs = deep tendon reflexes; Htz = heterozygous; Hmz = homozygous; MCV = motor conduction velocity (m/s); MMSE = Mini–Mental State Examination; MRI = magnetic resonance imaging; NA = not available (not scored or not examined); NCS = nerve conduction study.
F