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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]