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PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation
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 cir...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772106/ https://www.ncbi.nlm.nih.gov/pubmed/31187503 http://dx.doi.org/10.1002/ana.25524 |