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Erschienen in: Orphanet Journal of Rare Diseases 1/2013

Open Access 01.12.2013 | Erratum

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

verfasst von: Hyeon Jin Kim, Young Bin Hong, Jin-Mo Park, Yu-Ri Choi, Ye Jin Kim, Bo Ram Yoon, Heasoo Koo, Jeong Hyun Yoo, Sang Beom Kim, Minhwa Park, Ki Wha Chung, Byung-Ok Choi

Erschienen in: Orphanet Journal of Rare Diseases | Ausgabe 1/2013

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Hinweise
The online version of the original article can be found at 10.​1186/​1477-3155-9-7
Hyeon Jin Kim, Young Bin Hong contributed equally to this work.

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.
Open Access This article is published under license to BioMed Central Ltd. This is an Open Access article is distributed under the terms of the Creative Commons Attribution License ( https://​creativecommons.​org/​licenses/​by/​2.​0 ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver ( https://​creativecommons.​org/​publicdomain/​zero/​1.​0/​ ) applies to the data made available in this article, unless otherwise stated.
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Literatur
1.
Zurück zum Zitat 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.CrossRef 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.CrossRef
2.
Zurück zum Zitat 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.PubMedCrossRef 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.PubMedCrossRef
Metadaten
Titel
Erratum to: Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
verfasst von
Hyeon Jin Kim
Young Bin Hong
Jin-Mo Park
Yu-Ri Choi
Ye Jin Kim
Bo Ram Yoon
Heasoo Koo
Jeong Hyun Yoo
Sang Beom Kim
Minhwa Park
Ki Wha Chung
Byung-Ok Choi
Publikationsdatum
01.12.2013
Verlag
BioMed Central
Erschienen in
Orphanet Journal of Rare Diseases / Ausgabe 1/2013
Elektronische ISSN: 1750-1172
DOI
https://doi.org/10.1186/1750-1172-8-165

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