Nakhro et al. (2013) reported 3 Korean sisters, born of unrelated parents, with onset of progressive demyelinating CMT in or near the first decade of life (5 to 11 years). All presented with distal leg weakness, 2 with ... Nakhro et al. (2013) reported 3 Korean sisters, born of unrelated parents, with onset of progressive demyelinating CMT in or near the first decade of life (5 to 11 years). All presented with distal leg weakness, 2 with gait ataxia. Examination of the patients as adults showed atrophy and weakness in the proximal and distal muscles of the upper and lower limbs, most prominently in lower leg and intrinsic hand muscles. There was areflexia and distal sensory loss, with vibration and position senses more severely affected than pain and temperature. All had pes planus, 2 had scoliosis, and none had glaucoma. Two patients became wheelchair-bound in their mid-forties. Median and ulnar nerve conduction velocities were less than 38 m/s in all patients, and sural nerve biopsy of 1 patient showed absence of large myelinated fibers, focally folded myelin sheaths, few onion bulbs, and occasional regenerating clusters of axons.
In 3 Korean sisters with Charcot-Marie-Tooth disease, Nakhro et al. (2013) identified compound heterozygous missense mutations in the SBF1 gene (603560.0001 and 603560.0002). The mutations were found by whole-exome sequencing and segregated with the disorder in the family. ... In 3 Korean sisters with Charcot-Marie-Tooth disease, Nakhro et al. (2013) identified compound heterozygous missense mutations in the SBF1 gene (603560.0001 and 603560.0002). The mutations were found by whole-exome sequencing and segregated with the disorder in the family. Functional studies were not performed.