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Table 1 Clinical features

From: A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease

Patient 1 2
Mutations c.374 T > C; p.Leu125Pro c.334G > A
p.Thr115Asn
Sex/age M/39 F/46
Age of onset First decade 30 years
Presenting symptom High arches, Foot deformity (asymmetric), pain on longer walks
Weakness
 Upper limbs
 Lower limbs + +
Pinprick
 Upper limbs
 Lower limbs ++ ++
Vibration
 Upper limbs
 Lower limbs + +
Skeletal deformities Severe pes cavus Pes cavus, hammer toes
CMTES 6 7
CMTNS ND 9
Aid for walking No No
  1. Weakness: − normal, +  ≥ 4 in distal muscles, ++ < 4 in distal muscles, +++ proximal weakness (knee flexion and extension, elbow flexion and extension, and/or above); Pinprick and vibration sense: − normal, + reduced below wrist/ankle, ++ reduced below elbow/knee, +++ reduced at or above elbow/knee
  2. N  normal, ND not done, VEP visual evoked potentials, BAEP  brain stem auditory evoked potentials, CMCT  central motor conduction time, CMTES  Charcot–Marie–Tooth evaluation score (max score 28/28), CMTNS  Charcot–Marie–Tooth Neuropathy Score (max score 36/36)