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Table 1

From: Erratum to: Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

Disease Charcot-Marie-Tooth disease Lower motor neuron disease
Phenotype Motor and sensory neuropathy Motor neuropathy
Origin Korean (Asian) Mali (African)
Mutation Compound heterozygous missense Homozygous missense
Nucleotide change c.1988C > T, c.2458G > C c.1940T > C
Amino acid change p.Thr663Met, p.Gly820Arg p.Phe647Ser
Age at onset 8 years 2–11.5 years
Symptom at onset Distal muscle weakness of lower limbs Proximal muscle weakness and early involvements of foot and hand
Muscle weakness   
 Upper limb, proximal No Yes
 Upper limb, distal Yes Yes
 Lower limb, proximal Yes Yes
 Lower limb, distal Yes Yes
Muscle atrophy Proximal < distal Proximal = distal (generalized)
Sensory loss Yes No
Areflexia Yes Yes
Pyramidal sign No No
Bulbar symptom No No
Cranial neuropathy No No
Foot deformity Yes Yes
Scoliosis No Yes
Respiratory dysfunction No Yes (60%)
Wheelchair bound No Yes (80%)
Nerve conduction study Sensorimotor neuropathy Motor neuropathy
Electromyography Muscle denervation Muscle denervation
Sural nerve biopsy Severe loss of myelinated fibers (297/mm2, normal: 9,800/mm2) Normal
References This study Maystadt et al. (2006) [2]