Abstract:Neuromuscular Disorders 31 (2021) S47-S162 paresis is common. We describe a male patient presenting clinically at 2 years of age with toe-walking. His subsequent course was characterized by progressive distal weakness and loss of ambulation. Electromyelogram and nerve conduction studies demonstrated axonal injury in both sensory and motor nerves, affecting lower greater than upper extremities. Invitae Comprehensive Neuropathies Panel identified a known pathogenic variant in GDAP1 , c.116delA (p.Lys39Argfs * 5)… Show more
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