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Recently, biallelic variants in <jats:italic>GGPS1<\/jats:italic> were linked to a distinct autosomal recessive form of muscular dystrophy associated with hearing loss and ovarian insufficiency. In this report, we present a case of a young patient with a homozygous variant in <jats:italic>GGPS1<\/jats:italic>. The patient presented with only proximal muscle weakness, and elevated liver transaminases with spared hearing function. The hepatic involvement in this patient caused by a novel deleterious variant in the gene extends the phenotypic and genotypic spectrum of <jats:italic>GGPS1<\/jats:italic> related muscular dystrophy.<\/jats:p>","DOI":"10.1002\/ajmg.a.63498","type":"journal-article","created":{"date-parts":[[2023,12,22]],"date-time":"2023-12-22T05:31:08Z","timestamp":1703223068000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Expanding the phenotypic and genotypic spectrum of <scp>GGPS1<\/scp> related congenital muscular dystrophy"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0146-8169","authenticated-orcid":false,"given":"Ruqaiah","family":"Altassan","sequence":"first","affiliation":[{"name":"Department of Medical Genomics King Faisal Specialist Hospital and Research Center  Riyadh Kingdom of Saudi Arabia"},{"name":"College of Medicine, Alfaisal University  Riyadh Kingdom of Saudi 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