Article

Metabolic and muscle-derived serum biomarkers define CHCHD10-linked late-onset spinal muscular atrophy

2021-04-09

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Objective</h4> To characterize serum biomarkers in mitochondrial CHCHD10-linked spinal muscular atrophy Jokela type (SMAJ) for disease monitoring and for understanding of pathogenic mechanisms. <h4>Methods</h4> We collected serum samples from a cohort of 49 SMAJ patients, all carriers of the heterozygous c.197G>T p.G66V variant in CHCHD10 . As controls, we used age- and sex-matched serum samp...

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Literature Corpus work: 7b0c09a9-cbe3-5af0-bff0-9dacdfb42494
DOI: 10.1101/2021.04.07.21254960

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