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Article

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

12 Jun 2019

Abstract excerpt

OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact...

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PMID: 31187503
DOI: 10.1002/ana.25524

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