Erschienen in:
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
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:
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.
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