Erratum to: Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
- Hyeon Jin Kim†1,
- Young Bin Hong†1,
- Jin-Mo Park1,
- Yu-Ri Choi1,
- Ye Jin Kim2,
- Bo Ram Yoon2,
- Heasoo Koo3,
- Jeong Hyun Yoo4,
- Sang Beom Kim5,
- Minhwa Park6,
- Ki Wha Chung2Email author and
- Byung-Ok Choi1Email author
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: 25 October 2013
The original article was published in Orphanet Journal of Rare Diseases 2013 8:104
Correction
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
References
- 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
- 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
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.
