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Table 1 Clinical characterization of five Pakistani CMT patients

From: Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease

Item/patient (sex) PaC2:IV-1 (male) PaC3:IV-1 (male) PaC4:IV-1 (male) PaC6:IV-2 (female) PaC14:IV-2 (male)
Gene: mutation SH3TC2: p.Q867* SH3TC2: p.G1217D HK1: p.R7* REEP1: p.G83Afs*44 MFN2: p.V112M
Type CMT4C CMT4C CMT4G dHMN5B/SMARD1 CMT2A2B
AOE/AOO (year) 6/3 10/3 11/1 2.5/ < 1 7/5
Muscle atrophy Yes Yes Yes Yes Yes
FDS 3 3 3 3 3
Sensory loss Yes Yes Yes No Yes
DTR, ankle Absent Absent Absent Decreased Absent
Foot deformities Yes Yes Yes Yes Yes
Brain/Spine MRI ND Normal brain Normal spine Normal brain ND
Other symptoms Scoliosis Scoliosis, short stature Mild respiratory distress Vocal cord hoarseness
Motor nerve conduction studies
Median CMAP (mV) 1.3 Absent ND Absent ND
Median MNCV (m/s) 14.1 Absent ND Absent ND
Ulnar CMAP (mV) 0.8 4.1 ND Absent ND
Ulnar MNCV (m/s) 12.8 25.0 ND Absent ND
Peroneal CMAP (mV) 0.8 Absent ND Absent ND
Peroneal MNCV (m/s) 14.9 Absent ND Absent ND
Sensory nerve conduction studies
Median SNAP (μV) Absent 10.6 ND 22.0 ND
Median SNCV (m/s) Absent 26.0 ND 51.3 ND
Ulnar SNAP (μV) Absent ND ND 22.2 ND
Ulnar SNCV (m/s) Absent ND ND 39.5 ND
Sural SNAP (μV) Absent 8.8 ND 16.3 ND
Sural SNCV (m/s) Absent 32.0 ND 39.8 ND
  1. AOE: age of examination, AOO: age of onset, CMAP: compound muscle action potential, DTR: deep tendon reflexes, FDS: functional disability scale, MNCV: motor nerve conduction velocity, ND: not done, SNAP: sensory nerve action potential, SNCV: sensory nerve conduction velocity
  2. *indicates putative translational termination