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Fig. 1. Clinical features of the proband and segregation analysis of the GJB1 p.E208K mutation. A: The pedigree of the proband diagnosed with CMTX1 and.

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Presentation on theme: "Fig. 1. Clinical features of the proband and segregation analysis of the GJB1 p.E208K mutation. A: The pedigree of the proband diagnosed with CMTX1 and."— Presentation transcript:

1 Fig. 1. Clinical features of the proband and segregation analysis of the GJB1 p.E208K mutation. A: The pedigree of the proband diagnosed with CMTX1 and ALS. B: The clinical features of the proband, with obvious atrophy tongue and bilateral claw hands and pes cavus. C: Spontaneous activities in an EMG examination in the proband. D: Brain MRI showed increased symmetrical FLAIR signal intensity in the posterior limb of the internal capsule (arrows). E: Segregation analysis of the GJB1 p.E208K mutation. ALS: amyotrophic lateral sclerosis, CMTX1: Charcot-Marie-Tooth disease type 1, FDI: first dorsal interosseous, FLAIR: fluid attenuation inversion recovery, GJB1: gap junction beta-1. Fig. 1. Clinical features of the proband and segregation analysis of the GJB1 p.E208K mutation. A: The pedigree of the proband diagnosed with CMTX1 and ALS. B: The clinical features of the proband, with obvious atrophy tongue and bilateral claw hands and pes cavus. C: Spontaneous activities in an EMG examination in the proband. D: Brain MRI showed… J Clin Neurol Apr;14(2):

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