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Article

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.

Neuromuscular disorders : NMD - 1 Nov 2017

Van den Bergh P Y K, Sznajer Y, Van Parys V, van Tol W, Wevers R A, Lefeber D J, Xu L, Lek M, MacArthur D G, Johnson K, Phillips L, Töpf A, Straub V

Abstract excerpt

Defects of O-linked glycosylation of alpha-dystroglycan cause a wide spectrum of muscular dystrophies ranging from severe congenital muscular dystrophy associated with abnormal brain and eye development to mild limb girdle muscular dystrophy. We report a female patient who developed isolated pelvic girdle muscle weakness and wasting, which became symptomatic at age 42. Exome sequencing uncovered a homozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28803818
DOI: 10.1016/j.nmd.2017.07.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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