PMC5226824_01
Clinical characterization of the CMT2A patient harboring the p.Arg274Trp mutation.. A. Wasting of distal muscles (upper and lower limbs) in the proband. B. Severe wasting of the small hand muscles and forearms in the proband. C. Pes cavus deformity in the proband.
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pone.0169999.g001
On neurological examination at the age of 23 years, he presented with symmetrical muscle atrophy in the distal parts of both the upper and lower limbs (Fig 1). Ankle jerks were absent and pes cavus deformity present (Fig 1C).