Article

Clinical and molecular genetic analysis further delineates the phenotypic variability of POMT2-related limb girdle muscular dystrophy type R14

2024-07-03

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> The <italic>POMT2</italic> gene, which encodes protein O-mannosyltransferase 2, is crucial for the initial stage of α-dystroglycan glycosylation. Mutations in <italic>POMT2 </italic>are responsible for severe congenital muscular dystrophies, such as Walker-Warburg syndrome, muscle-eye-brain disease, and limb-girdle muscular dystrophy R14 (LGMDR14). This article r...

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Literature Corpus work: a40dd75b-19a7-5c21-9dc0-462c0407027f
DOI: 10.21203/rs.3.rs-4332192/v1

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