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Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2

BACKGROUND AND OBJECTIVES: To expand the phenotype and genotype associated with PCYT2-related disorder. METHODS: Exome sequencing data from a patient with molecularly undiagnosed complex spastic paraplegia and axonal motor and sensory polyneuropathy were analyzed. Clinical data and nerve conduction...

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Detalles Bibliográficos
Autores principales:	Leonardis, Lea, Skrjanec Pusenjak, Marusa, Maver, Ales, Jaklic, Helena, Ozura Brecko, Ana, Koritnik, Blaz, Peterlin, Borut, Writzl, Karin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8889895/ https://www.ncbi.nlm.nih.gov/pubmed/35243002 http://dx.doi.org/10.1212/NXG.0000000000000658

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