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Article

Consistent MRI pattern in ADSS1 myopathy with variable clinical presentations: A Korean cohort study.

PloS one - 1 Jan 2026

Kim Soo-Hyun, Choi Yunjung, Park Hyung Jun, Hong Ji-Man, Choi Young-Chul

Abstract excerpt

ADSS1 myopathy (previously referred to as ADSSL1 myopathy) is a rare autosomal recessive muscle disease caused by mutations in the ADSS1 gene, which encodes an enzyme critical for purine nucleotide synthesis. First characterized in Korean patients in 2016, the disease exhibits phenotypic variability in its clinical presentation. We conducted a retrospective cohort study of 30 patients with genetically confirmed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41973717
DOI: 10.1371/journal.pone.0324116
PMCID: PMC13075665

Genes

ADSS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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