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Table 2 PMP22 and 5HTTLPR genotypes, clinical symptoms and medication of HN patients (control group)

From: Psychiatric symptoms of patients with primary mitochondrial DNA disorders

ID PMP22 mutation 5HTTLPR genotype Symptoms Medication (with total daily dose)
20 PMP22 duplication L/L Mild atrophy of the hand and feet muscles -
21 PMP22 duplication L/L Pes equinovarus, moderate paresis in the distal muscles of the legs -
22 PMP22 deletion S/S Sensory disturbancies in the lower limbs, neuropathy to pressure palsy -
23 PMP22 duplication S/S Generalized muscle weakness, walking difficulty, distal type hypesthesia in the limbs, excavated feet pregabalin (300 mg) duloxetine (30 mg)
24 PMP22 duplication L/S Paresthesia, distal type hypesthesia in the limbs, muscle cramps, gait instability -
25 PMP22 duplication L/S Distal type muscle weakness in the limbs, tremor in the hands chlordiazepoxide (5 mg) tolperisone (150 mg) propranolol (40 mg)
26 PMP22 duplication L/S Excavated feet, moderate distal paresis of the limbs, ataxia -
27 PMP22 duplication S/S Mild paresis in the hand and feet muscles -
28 PMP22 duplication S/S Moderate distal weakness of the limbs, distal type hypesthesia, head tremor, gait instability. Associated disorders: diabetes mellitus, hyperlipidaemia duloxetine (60 mg) gabapentin (600 mg) rosuvastatine (20 mg) ezetimibe (10 mg)
29 PMP22 duplication L/L Moderate atrophy and paresis in the hand and feet muscles, gait instability. Associated disorder: asthma bronchiale -
  1. Abbr.: PMP22 peripheral myelin protein-22; 5HTTLPR: serotonin-transporter-linked polymorphic region; S/S genotype: short-short homozygous; L/L genotype: long-long homozygous; L/S genotype: long-short heterozygous