<i>PNPT1</i> Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders

An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive decline since early adolescence. A neurological...

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Principais autores:	Paulo Sgobbi, Igor Braga Farias, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, Adriel Rêgo Barbosa, Pedro Henrique Almeida Fraiman, Vinícius Lopes Braga, Roberta Ismael Lacerda Machado, Sophia Luiz Calegaretti, Isabela Danziato Fernandes, Roberta Correa Ribeiro, Marco Antonio Orsini Neves, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
Formato:	Artigo
Idioma:	Inglês
Publicado:	MDPI AG 2024-01-01
Series:	Muscles
Assuntos:	inherited metabolic disorders spinocerebellar ataxia spastic ataxia optic atrophy mitochondrial disease <i>PNPT1</i>
Acceso en liña:	https://www.mdpi.com/2813-0413/3/1/2
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