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  • Erratum
  • Open Access

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

  • †1,
  • †1,
  • 1,
  • 1,
  • 2,
  • 2,
  • 3,
  • 4,
  • 5,
  • 6,
  • 2Email author and
  • 1Email author
†Contributed equally
Orphanet Journal of Rare Diseases20138:165

https://doi.org/10.1186/1750-1172-8-165

©  Kim et al.; licensee BioMed Central Ltd. 2013

  • Received: 16 October 2013
  • Accepted: 16 October 2013
  • Published:

The original article was published in Orphanet Journal of Rare Diseases 2013 8:104

Correction

After the publication of this work [1] it was brought to the authors attention that Table three (Table 1 here) stated that the patient with Charcot-Marie-Tooth disease had scoliosis, when the patient did not have scoliosis. The corrected table is given below:

Table 1

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]

We regret any inconvenience that this inaccuracy may have caused.

Notes

Authors’ Affiliations

(1)
Department of Neurology, School of Medicine, Ewha Womans University, 911-1 Mokdong, Yangcheon-ku, Seoul, 158-710, Korea
(2)
Department of Biological Science, Kongju National University, 182 Sinkwan-dong, Gongju, 314-701, Korea
(3)
Department of Pathology, School of Medicine, Ewha Womans University, Seoul, Korea
(4)
Department of Radiology, School of Medicine, Ewha Womans University, Seoul, Korea
(5)
Department of Neurology, Kyung Hee University, College of Medicine, Seoul, Korea
(6)
Department of Microbiology, Ewha Womans University, Seoul, Korea

References

  1. Hyeon K, Young H, Jin-Mo P, Yu-Ri C, Ye K, Bo Y, Heasoo K, Jeong Y, Sang K, Minhwa P, Ki C, Byung-Ok C: Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. Orphanet Journal of Rare Diseases. 2013, 8: 104. 10.1186/1750-1172-8-104.View ArticleGoogle Scholar
  2. Maystadt I, Zarhrate M, Leclair-Richard D, Estournet B, Barois A, Renault F, Routon MC, Durand MC, Lefebvre S, Munnich A, Verellen-Dumoulin C, Viollet L: A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36. Neurology. 2006, 67: 120-124. 10.1212/01.wnl.0000223834.55225.2d.PubMedView ArticleGoogle Scholar

Copyright

© Kim et al.; licensee BioMed Central Ltd. 2013

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172