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New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient.

Neuromuscular disorders : NMD - 1 Aug 2021

Rodríguez-García María Elena, Cotrina-Vinagre Francisco Javier, Bellusci Marcello, Merino-López Abraham, Chumilla-Calzada Silvia, García-Silva María Teresa, Martínez-Azorín Francisco

Abstract excerpt

We report the case of a 16-year-old Spanish boy with cerebellar and spinal muscular atrophy, spasticity, psychomotor retardation, nystagmus, ophthalmoparesis, epilepsy, and mitochondrial respiratory chain (MRC) deficiency. Whole exome sequencing (WES) uncovered three variants (two of them novel) in a compound heterozygous in EXOSC8 gene (NM_181503.3:c.[390+1delG];[628C>T;815G>C]) that encodes the exosome complex...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34210538
DOI: 10.1016/j.nmd.2021.05.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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