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Fig. 2 | BMC Neurology

Fig. 2

From: A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report

Fig. 2

The genetic findings of the patient. (A) The genetic examination revealed that the patient carried a de novo variant (POLR3B: c.3137G > A, p.R1046H), and the parent-child relationship was established by parenthood analysis. (B) Chromatograms of the target variant. (C) Conservation analysis of amino acid sequences on p. R1046H variant sites are highly conserved

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BMC Neurology

ISSN: 1471-2377

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